Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ACTL7B_chr9_108849588_108860986	108855929	A A	G G	start_lost start_lost	HIGH	HG00280.hp2 HG00323.hp1 HG01069.hp2 others(17): Show HG00280.hp2 HG00323.hp1 HG01069.hp2 HG01070.hp1 HG01261.hp1 HG01891.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG02293.hp1 HG02293.hp2 HG02602.hp2 HG02717.hp1 HG03017.hp1 HG03239.hp1 HG03516.hp2 HG03540.hp2 NA19043.hp1 NA20752.hp1	a0002 a0002	a0002c0005 a0002c0009 a0002c0005 a0002c0009	a0002c0005t0001 a0002c0009t0001 a0002c0005t0001 a0002c0009t0001	a0002c0005t0001g0000 a0002c0009t0001g0000 a0002c0005t0001g0000 a0002c0009t0001g0000	20	470	0.0426	0	c.2T> others(1): Show c.2T>C	p.Met others(2): Show p.Met1?	ACTL7B	ENSG00000148156.8	transcript	ENST00000374667.5	protein_coding	1/1	58/1399	2/1248	1/415			chr9	TogoVar
ACTN3_chr11_66541903_66568334	66560624	C C	T T	stop_gained stop_gained	HIGH	HG00099.hp1 HG00408.hp2 HG00423.hp1 others(147): Show HG00099.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01496.hp1 HG01928.hp2 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02293.hp1 HG02293.hp2 HG02523.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp2 HG03491.hp1 HG03516.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03834.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18949.hp1 NA18950.hp1 NA18952.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18962.hp1 NA18964.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18974.hp1 NA18977.hp1 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA18999.hp2 NA19001.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19054.hp2 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19070.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp2 NA19083.hp2 NA19085.hp2 NA19087.hp2 NA19090.hp1 NA20129.hp1 NA20129.hp2	a0002 a0011 a0013 others(1): Show a0002 a0011 a0013 a0020	a0002c0002 a0002c0008 a0002c0011 others(7): Show a0002c0002 a0002c0008 a0002c0011 a0002c0024 a0002c0025 a0002c0026 a0002c0027 a0011c0016 a0013c0029 a0020c0028	a0002c0002t0001 a0002c0002t0003 a0002c0008t0001 others(8): Show a0002c0002t0001 a0002c0002t0003 a0002c0008t0001 a0002c0011t0001 a0002c0024t0001 a0002c0025t0001 a0002c0026t0001 a0002c0027t0001 a0011c0016t0001 a0013c0029t0001 a0020c0028t0001	a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0010 others(67): Show a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0010 a0002c0002t0001g0013 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0039 a0002c0002t0001g0042 a0002c0002t0001g0046 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0057 a0002c0002t0001g0069 a0002c0002t0001g0076 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0102 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0126 a0002c0002t0001g0136 a0002c0002t0001g0153 a0002c0002t0003g0038 a0002c0008t0001g0040 a0002c0008t0001g0109 a0002c0011t0001g0001 a0002c0011t0001g0013 a0002c0024t0001g0101 a0002c0025t0001g0036 a0002c0026t0001g0124 a0002c0027t0001g0001 a0011c0016t0001g0001 a0013c0029t0001g0035 a0020c0028t0001g0001	150	400	0.3750	0	c.172 others(4): Show c.1729C>T	p.Arg others(4): Show p.Arg577*	ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	15/21	1764/2882	1729/2706	577/901			chr11	TogoVar
AGAP3_chr7_151081475_151149434	151086812	G G	GT GT	frameshift_variant frameshift_variant	HIGH	HG01884.hp2 HG01891.hp1 HG02280.hp1 others(6): Show HG01884.hp2 HG01891.hp1 HG02280.hp1 HG02886.hp1 HG02896.hp1 HG02970.hp2 HG03130.hp1 HG03516.hp1 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0020 a0001c0002 a0001c0020	a0001c0002t0002 a0001c0020t0002 a0001c0002t0002 a0001c0020t0002	a0001c0002t0002g0310 a0001c0002t0002g0311 a0001c0002t0002g0312 others(6): Show a0001c0002t0002g0310 a0001c0002t0002g0311 a0001c0002t0002g0312 a0001c0002t0002g0314 a0001c0002t0002g0317 a0001c0002t0002g0318 a0001c0002t0002g0319 a0001c0002t0002g0321 a0001c0020t0002g0315	9	354	0.0254	1	c.71_ others(6): Show c.71_72insT	p.Ala others(4): Show p.Ala25fs	AGAP3	ENSG00000133612.20	transcript	ENST00000397238.7	protein_coding	1/18	339/3494	72/2736	24/911			chr7	TogoVar
AGAP3_chr7_151081475_151149434	151086813	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(341): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(4): Show a0001 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0001c0003 a0001c0004 others(14): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0011 a0001c0013 a0001c0017 a0001c0018 a0003c0019 a0004c0016 a0005c0012 a0006c0015 a0007c0014 a0008c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0003t0001 a0001c0003t0006 a0001c0004t0001 a0001c0005t0006 a0001c0006t0001 a0001c0007t0002 a0001c0009t0001 a0001c0011t0001 a0001c0013t0001 a0001c0017t0001 a0001c0018t0001 a0003c0019t0004 a0004c0016t0001 a0005c0012t0002 a0006c0015t0001 a0007c0014t0001 a0008c0010t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(332): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0331 a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0010 a0001c0001t0002g0109 a0001c0001t0002g0128 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0173 a0001c0001t0002g0178 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0313 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0335 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0003g0104 a0001c0001t0003g0106 a0001c0001t0003g0186 a0001c0001t0003g0190 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0232 a0001c0001t0003g0248 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0276 a0001c0001t0003g0281 a0001c0001t0004g0023 a0001c0001t0004g0090 a0001c0001t0004g0221 a0001c0001t0004g0253 a0001c0001t0004g0271 a0001c0001t0004g0273 a0001c0001t0004g0342 a0001c0001t0005g0005 a0001c0001t0005g0126 a0001c0001t0005g0141 a0001c0001t0005g0142 a0001c0001t0005g0153 a0001c0001t0005g0169 a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0006g0337 a0001c0001t0006g0341 a0001c0001t0007g0152 a0001c0001t0007g0156 a0001c0001t0007g0172 a0001c0001t0008g0022 a0001c0001t0009g0204 a0001c0003t0001g0027 a0001c0003t0001g0134 a0001c0003t0001g0135 a0001c0003t0001g0137 a0001c0003t0001g0168 a0001c0003t0006g0340 a0001c0004t0001g0013 a0001c0004t0001g0014 a0001c0004t0001g0016 a0001c0004t0001g0132 a0001c0005t0006g0336 a0001c0005t0006g0338 a0001c0005t0006g0339 a0001c0006t0001g0019 a0001c0006t0001g0042 a0001c0007t0002g0316 a0001c0007t0002g0320 a0001c0009t0001g0068 a0001c0011t0001g0219 a0001c0013t0001g0213 a0001c0017t0001g0222 a0001c0018t0001g0108 a0003c0019t0004g0292 a0004c0016t0001g0052 a0005c0012t0002g0334 a0006c0015t0001g0124 a0007c0014t0001g0033 a0008c0010t0001g0244	344	354	0.9718	1	c.73d others(3): Show c.73dupG	p.Ala others(4): Show p.Ala25fs	AGAP3	ENSG00000133612.20	transcript	ENST00000397238.7	protein_coding	1/18	341/3494	74/2736	25/911		INFO_REALIGN_3_PRIME	chr7	TogoVar
AGAP3_chr7_151081475_151149434	151086821	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(350): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(4): Show a0001 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0001c0002 a0001c0003 others(16): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0011 a0001c0013 a0001c0017 a0001c0018 a0001c0020 a0003c0019 a0004c0016 a0005c0012 a0006c0015 a0007c0014 a0008c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0002t0002 a0001c0003t0001 a0001c0003t0006 a0001c0004t0001 a0001c0005t0006 a0001c0006t0001 a0001c0007t0002 a0001c0009t0001 a0001c0011t0001 a0001c0013t0001 a0001c0017t0001 a0001c0018t0001 a0001c0020t0002 a0003c0019t0004 a0004c0016t0001 a0005c0012t0002 a0006c0015t0001 a0007c0014t0001 a0008c0010t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(341): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0331 a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0010 a0001c0001t0002g0109 a0001c0001t0002g0128 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0173 a0001c0001t0002g0178 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0313 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0335 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0003g0104 a0001c0001t0003g0106 a0001c0001t0003g0186 a0001c0001t0003g0190 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0232 a0001c0001t0003g0248 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0276 a0001c0001t0003g0281 a0001c0001t0004g0023 a0001c0001t0004g0090 a0001c0001t0004g0221 a0001c0001t0004g0253 a0001c0001t0004g0271 a0001c0001t0004g0273 a0001c0001t0004g0342 a0001c0001t0005g0005 a0001c0001t0005g0126 a0001c0001t0005g0141 a0001c0001t0005g0142 a0001c0001t0005g0153 a0001c0001t0005g0169 a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0006g0337 a0001c0001t0006g0341 a0001c0001t0007g0152 a0001c0001t0007g0156 a0001c0001t0007g0172 a0001c0001t0008g0022 a0001c0001t0009g0204 a0001c0002t0002g0310 a0001c0002t0002g0311 a0001c0002t0002g0312 a0001c0002t0002g0314 a0001c0002t0002g0317 a0001c0002t0002g0318 a0001c0002t0002g0319 a0001c0002t0002g0321 a0001c0003t0001g0027 a0001c0003t0001g0134 a0001c0003t0001g0135 a0001c0003t0001g0137 a0001c0003t0001g0168 a0001c0003t0006g0340 a0001c0004t0001g0013 a0001c0004t0001g0014 a0001c0004t0001g0016 a0001c0004t0001g0132 a0001c0005t0006g0336 a0001c0005t0006g0338 a0001c0005t0006g0339 a0001c0006t0001g0019 a0001c0006t0001g0042 a0001c0007t0002g0316 a0001c0007t0002g0320 a0001c0009t0001g0068 a0001c0011t0001g0219 a0001c0013t0001g0213 a0001c0017t0001g0222 a0001c0018t0001g0108 a0001c0020t0002g0315 a0003c0019t0004g0292 a0004c0016t0001g0052 a0005c0012t0002g0334 a0006c0015t0001g0124 a0007c0014t0001g0033 a0008c0010t0001g0244	353	354	0.9972	1	c.81d others(3): Show c.81dupG	p.Gln others(4): Show p.Gln28fs	AGAP3	ENSG00000133612.20	transcript	ENST00000397238.7	protein_coding	1/18	349/3494	82/2736	28/911		INFO_REALIGN_3_PRIME	chr7	TogoVar
AGAP3_chr7_151081475_151149434	151086831	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(350): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(4): Show a0001 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0001c0002 a0001c0003 others(16): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0011 a0001c0013 a0001c0017 a0001c0018 a0001c0020 a0003c0019 a0004c0016 a0005c0012 a0006c0015 a0007c0014 a0008c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0002t0002 a0001c0003t0001 a0001c0003t0006 a0001c0004t0001 a0001c0005t0006 a0001c0006t0001 a0001c0007t0002 a0001c0009t0001 a0001c0011t0001 a0001c0013t0001 a0001c0017t0001 a0001c0018t0001 a0001c0020t0002 a0003c0019t0004 a0004c0016t0001 a0005c0012t0002 a0006c0015t0001 a0007c0014t0001 a0008c0010t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(341): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0331 a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0010 a0001c0001t0002g0109 a0001c0001t0002g0128 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0173 a0001c0001t0002g0178 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0313 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0335 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0003g0104 a0001c0001t0003g0106 a0001c0001t0003g0186 a0001c0001t0003g0190 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0232 a0001c0001t0003g0248 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0276 a0001c0001t0003g0281 a0001c0001t0004g0023 a0001c0001t0004g0090 a0001c0001t0004g0221 a0001c0001t0004g0253 a0001c0001t0004g0271 a0001c0001t0004g0273 a0001c0001t0004g0342 a0001c0001t0005g0005 a0001c0001t0005g0126 a0001c0001t0005g0141 a0001c0001t0005g0142 a0001c0001t0005g0153 a0001c0001t0005g0169 a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0006g0337 a0001c0001t0006g0341 a0001c0001t0007g0152 a0001c0001t0007g0156 a0001c0001t0007g0172 a0001c0001t0008g0022 a0001c0001t0009g0204 a0001c0002t0002g0310 a0001c0002t0002g0311 a0001c0002t0002g0312 a0001c0002t0002g0314 a0001c0002t0002g0317 a0001c0002t0002g0318 a0001c0002t0002g0319 a0001c0002t0002g0321 a0001c0003t0001g0027 a0001c0003t0001g0134 a0001c0003t0001g0135 a0001c0003t0001g0137 a0001c0003t0001g0168 a0001c0003t0006g0340 a0001c0004t0001g0013 a0001c0004t0001g0014 a0001c0004t0001g0016 a0001c0004t0001g0132 a0001c0005t0006g0336 a0001c0005t0006g0338 a0001c0005t0006g0339 a0001c0006t0001g0019 a0001c0006t0001g0042 a0001c0007t0002g0316 a0001c0007t0002g0320 a0001c0009t0001g0068 a0001c0011t0001g0219 a0001c0013t0001g0213 a0001c0017t0001g0222 a0001c0018t0001g0108 a0001c0020t0002g0315 a0003c0019t0004g0292 a0004c0016t0001g0052 a0005c0012t0002g0334 a0006c0015t0001g0124 a0007c0014t0001g0033 a0008c0010t0001g0244	353	354	0.9972	1	c.91d others(3): Show c.91dupG	p.Val others(4): Show p.Val31fs	AGAP3	ENSG00000133612.20	transcript	ENST00000397238.7	protein_coding	1/18	359/3494	92/2736	31/911		INFO_REALIGN_3_PRIME	chr7	TogoVar
AGAP6_chr10_49983406_50015499	49988768	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00609.hp2 HG00741.hp1 others(36): Show HG00140.hp1 HG00609.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01106.hp1 HG01175.hp1 HG01192.hp2 HG01256.hp1 HG01257.hp1 HG01346.hp2 HG01891.hp2 HG01934.hp1 HG01981.hp1 HG02280.hp1 HG02602.hp2 HG02735.hp2 HG02809.hp2 HG03017.hp2 HG03209.hp2 HG03540.hp2 HG03669.hp2 HG03688.hp2 HG03834.hp2 HG03942.hp1 NA18943.hp1 NA18945.hp2 NA18947.hp1 NA18961.hp2 NA18962.hp2 NA18970.hp1 NA18973.hp1 NA18975.hp1 NA18986.hp2 NA19054.hp1 NA19062.hp2 NA19082.hp2 NA19086.hp1 NA20752.hp2	a0003 a0003	a0003c0003 a0003c0014 a0003c0031 a0003c0003 a0003c0014 a0003c0031	a0003c0003t0003 a0003c0003t0009 a0003c0003t0010 others(3): Show a0003c0003t0003 a0003c0003t0009 a0003c0003t0010 a0003c0014t0003 a0003c0014t0008 a0003c0031t0003	a0003c0003t0003g0011 a0003c0003t0003g0017 a0003c0003t0003g0024 others(25): Show a0003c0003t0003g0011 a0003c0003t0003g0017 a0003c0003t0003g0024 a0003c0003t0003g0025 a0003c0003t0003g0026 a0003c0003t0003g0053 a0003c0003t0003g0216 a0003c0003t0003g0217 a0003c0003t0003g0218 a0003c0003t0003g0219 a0003c0003t0003g0221 a0003c0003t0003g0222 a0003c0003t0003g0223 a0003c0003t0003g0224 a0003c0003t0003g0225 a0003c0003t0003g0226 a0003c0003t0003g0227 a0003c0003t0003g0228 a0003c0003t0003g0229 a0003c0003t0003g0231 a0003c0003t0003g0232 a0003c0003t0003g0233 a0003c0003t0003g0234 a0003c0003t0009g0025 a0003c0003t0010g0024 a0003c0014t0003g0220 a0003c0014t0008g0026 a0003c0031t0003g0230	39	406	0.0961	1	c.55d others(3): Show c.55dupC	p.Gln others(4): Show p.Gln19fs	AGAP6	ENSG00000204149.16	transcript	ENST00000412531.7	protein_coding	1/8	366/2684	56/2061	19/686		INFO_REALIGN_3_PRIME	chr10	TogoVar
AGAP6_chr10_49983406_50015499	50008914	CAA CAA	C C	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00609.hp2 HG00741.hp1 others(36): Show HG00140.hp1 HG00609.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01106.hp1 HG01175.hp1 HG01192.hp2 HG01256.hp1 HG01257.hp1 HG01346.hp2 HG01891.hp2 HG01934.hp1 HG01981.hp1 HG02280.hp1 HG02602.hp2 HG02735.hp2 HG02809.hp2 HG03017.hp2 HG03209.hp2 HG03540.hp2 HG03669.hp2 HG03688.hp2 HG03834.hp2 HG03942.hp1 NA18943.hp1 NA18945.hp2 NA18947.hp1 NA18961.hp2 NA18962.hp2 NA18970.hp1 NA18973.hp1 NA18975.hp1 NA18986.hp2 NA19054.hp1 NA19062.hp2 NA19082.hp2 NA19086.hp1 NA20752.hp2	a0003 a0003	a0003c0003 a0003c0014 a0003c0031 a0003c0003 a0003c0014 a0003c0031	a0003c0003t0003 a0003c0003t0009 a0003c0003t0010 others(3): Show a0003c0003t0003 a0003c0003t0009 a0003c0003t0010 a0003c0014t0003 a0003c0014t0008 a0003c0031t0003	a0003c0003t0003g0011 a0003c0003t0003g0017 a0003c0003t0003g0024 others(25): Show a0003c0003t0003g0011 a0003c0003t0003g0017 a0003c0003t0003g0024 a0003c0003t0003g0025 a0003c0003t0003g0026 a0003c0003t0003g0053 a0003c0003t0003g0216 a0003c0003t0003g0217 a0003c0003t0003g0218 a0003c0003t0003g0219 a0003c0003t0003g0221 a0003c0003t0003g0222 a0003c0003t0003g0223 a0003c0003t0003g0224 a0003c0003t0003g0225 a0003c0003t0003g0226 a0003c0003t0003g0227 a0003c0003t0003g0228 a0003c0003t0003g0229 a0003c0003t0003g0231 a0003c0003t0003g0232 a0003c0003t0003g0233 a0003c0003t0003g0234 a0003c0003t0009g0025 a0003c0003t0010g0024 a0003c0014t0003g0220 a0003c0014t0008g0026 a0003c0031t0003g0230	39	406	0.0961	-2	c.791 others(9): Show c.791_792delAA	p.Lys others(5): Show p.Lys264fs	AGAP6	ENSG00000204149.16	transcript	ENST00000412531.7	protein_coding	8/8	1101/2684	791/2061	264/686		INFO_REALIGN_3_PRIME	chr10	TogoVar
ALDH3B2_chr11_67657155_67679623	67674435	A A	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(370): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0020 a0021	a0001c0001 a0001c0007 a0001c0009 others(23): Show a0001c0001 a0001c0007 a0001c0009 a0001c0011 a0001c0015 a0001c0022 a0001c0024 a0002c0002 a0003c0003 a0005c0005 a0006c0006 a0007c0008 a0008c0012 a0008c0013 a0009c0010 a0010c0014 a0011c0016 a0012c0018 a0013c0019 a0014c0020 a0015c0023 a0016c0021 a0017c0017 a0018c0026 a0020c0028 a0021c0027	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(37): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0007t0001 a0001c0007t0012 a0001c0009t0005 a0001c0011t0001 a0001c0015t0004 a0001c0022t0001 a0001c0024t0001 a0002c0002t0002 a0002c0002t0019 a0002c0002t0021 a0002c0002t0022 a0002c0002t0023 a0002c0002t0024 a0003c0003t0001 a0005c0005t0001 a0006c0006t0001 a0007c0008t0001 a0008c0012t0010 a0008c0013t0008 a0009c0010t0001 a0010c0014t0016 a0010c0014t0017 a0011c0016t0006 a0012c0018t0018 a0013c0019t0001 a0014c0020t0001 a0015c0023t0001 a0016c0021t0001 a0017c0017t0009 a0018c0026t0014 a0020c0028t0002 a0021c0027t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(194): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0062 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0004g0193 a0001c0001t0004g0194 a0001c0001t0004g0195 a0001c0001t0006g0196 a0001c0001t0007g0043 a0001c0001t0009g0144 a0001c0001t0011g0052 a0001c0001t0013g0137 a0001c0001t0015g0135 a0001c0007t0001g0022 a0001c0007t0001g0057 a0001c0007t0001g0060 a0001c0007t0001g0095 a0001c0007t0001g0099 a0001c0007t0012g0106 a0001c0009t0005g0086 a0001c0009t0005g0087 a0001c0009t0005g0088 a0001c0011t0001g0056 a0001c0011t0001g0058 a0001c0011t0001g0059 a0001c0015t0004g0049 a0001c0022t0001g0142 a0001c0024t0001g0153 a0002c0002t0002g0016 a0002c0002t0002g0017 a0002c0002t0002g0027 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0176 a0002c0002t0002g0179 a0002c0002t0002g0181 a0002c0002t0002g0182 a0002c0002t0002g0183 a0002c0002t0002g0185 a0002c0002t0002g0186 a0002c0002t0002g0187 a0002c0002t0002g0188 a0002c0002t0002g0189 a0002c0002t0002g0190 a0002c0002t0019g0175 a0002c0002t0021g0177 a0002c0002t0022g0184 a0002c0002t0023g0178 a0002c0002t0024g0211 a0003c0003t0001g0012 a0003c0003t0001g0021 a0003c0003t0001g0033 a0003c0003t0001g0090 a0003c0003t0001g0091 a0003c0003t0001g0101 a0003c0003t0001g0102 a0003c0003t0001g0103 a0003c0003t0001g0105 a0003c0003t0001g0170 a0005c0005t0001g0004 a0005c0005t0001g0092 a0005c0005t0001g0094 a0005c0005t0001g0100 a0005c0005t0001g0110 a0005c0005t0001g0111 a0006c0006t0001g0005 a0006c0006t0001g0112 a0006c0006t0001g0114 a0007c0008t0001g0029 a0007c0008t0001g0061 a0007c0008t0001g0063 a0007c0008t0001g0064 a0007c0008t0001g0065 a0008c0012t0010g0197 a0008c0012t0010g0198 a0008c0013t0008g0066 a0008c0013t0008g0067 a0009c0010t0001g0026 a0010c0014t0016g0084 a0010c0014t0017g0083 a0011c0016t0006g0050 a0012c0018t0018g0171 a0013c0019t0001g0107 a0014c0020t0001g0108 a0015c0023t0001g0162 a0016c0021t0001g0149 a0017c0017t0009g0133 a0018c0026t0014g0085 a0020c0028t0002g0180 a0021c0027t0002g0174	373	390	0.9564	0	c.-24 others(6): Show c.-245+1T>G		ALDH3B2	ENSG00000132746.16	transcript	ENST00000673966.2	protein_coding	1/9						chr11	TogoVar
AMD1_chr6_110869785_110900713	110892724	T T	TC TC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(206): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02040.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02486.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02738.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18941.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18951.hp2 NA18952.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18979.hp2 NA18982.hp1 NA18985.hp1 NA18991.hp2 NA18997.hp1 NA18998.hp1 NA19001.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19006.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19057.hp2 NA19058.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19072.hp2 NA19077.hp2 NA19079.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(77): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0128 a0001c0001t0004g0015 a0001c0001t0004g0030 a0001c0001t0004g0047 a0001c0001t0004g0052 a0001c0001t0004g0083 a0001c0001t0005g0012 a0001c0001t0005g0028 a0001c0001t0005g0123 a0001c0001t0005g0124 a0001c0001t0005g0125 a0001c0001t0005g0127 a0001c0001t0006g0005 a0001c0001t0006g0033 a0001c0001t0006g0075 a0001c0001t0006g0079 a0001c0001t0008g0031 a0001c0001t0009g0012 a0001c0001t0010g0004 a0001c0001t0011g0003 a0001c0001t0013g0047 a0001c0001t0014g0014	209	394	0.5305	1	c.616 others(6): Show c.616-3dupC		AMD1	ENSG00000123505.19	transcript	ENST00000368885.8	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr6	TogoVar
ANKDD1B_chr5_75606453_75676846	75669297	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp2 HG00140.hp2 HG00408.hp1 others(139): Show HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp2 HG01433.hp1 HG01516.hp1 HG01891.hp1 HG01952.hp1 HG01975.hp2 HG02004.hp1 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02148.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02486.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04199.hp1 HG06807.hp1 NA18522.hp1 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18949.hp1 NA18950.hp2 NA18954.hp2 NA18957.hp1 NA18960.hp1 NA18964.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18978.hp1 NA18981.hp2 NA18984.hp2 NA18986.hp2 NA18987.hp1 NA18988.hp1 NA18989.hp2 NA18992.hp2 NA18999.hp1 NA19006.hp1 NA19009.hp2 NA19011.hp2 NA19030.hp2 NA19054.hp1 NA19058.hp1 NA19059.hp2 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19068.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp1 NA19081.hp1 NA19082.hp1 NA19084.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0006 a0007 others(10): Show a0001 a0006 a0007 a0010 a0013 a0015 a0017 a0018 a0020 a0021 a0022 a0023 a0024	a0001c0001 a0001c0019 a0001c0035 others(13): Show a0001c0001 a0001c0019 a0001c0035 a0006c0009 a0006c0015 a0007c0007 a0010c0011 a0013c0016 a0015c0025 a0017c0023 a0018c0022 a0020c0030 a0021c0031 a0022c0032 a0023c0033 a0024c0020	a0001c0001t0001 a0001c0001t0006 a0001c0001t0017 others(20): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0019t0001 a0001c0035t0001 a0006c0009t0007 a0006c0015t0001 a0007c0007t0006 a0007c0007t0012 a0007c0007t0013 a0007c0007t0014 a0010c0011t0001 a0013c0016t0001 a0015c0025t0007 a0017c0023t0019 a0018c0022t0001 a0020c0030t0007 a0021c0031t0001 a0022c0032t0012 a0023c0033t0006 a0024c0020t0014	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(122): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0006g0084 a0001c0001t0006g0154 a0001c0001t0006g0196 a0001c0001t0006g0243 a0001c0001t0006g0246 a0001c0001t0017g0058 a0001c0001t0018g0123 a0001c0001t0021g0146 a0001c0019t0001g0074 a0001c0019t0001g0075 a0001c0035t0001g0070 a0006c0009t0007g0141 a0006c0009t0007g0207 a0006c0009t0007g0209 a0006c0009t0007g0210 a0006c0009t0007g0211 a0006c0009t0007g0212 a0006c0009t0007g0213 a0006c0009t0007g0214 a0006c0015t0001g0020 a0006c0015t0001g0208 a0007c0007t0006g0004 a0007c0007t0006g0156 a0007c0007t0006g0255 a0007c0007t0006g0257 a0007c0007t0012g0256 a0007c0007t0013g0038 a0007c0007t0013g0039 a0007c0007t0014g0155 a0010c0011t0001g0158 a0010c0011t0001g0164 a0010c0011t0001g0194 a0010c0011t0001g0265 a0010c0011t0001g0293 a0013c0016t0001g0029 a0013c0016t0001g0033 a0015c0025t0007g0252 a0017c0023t0019g0190 a0018c0022t0001g0083 a0020c0030t0007g0163 a0021c0031t0001g0159 a0022c0032t0012g0195 a0023c0033t0006g0249 a0024c0020t0014g0254	142	372	0.3817	0	c.143 others(4): Show c.1439G>A	p.Trp others(4): Show p.Trp480*	ANKDD1B	ENSG00000189045.15	transcript	ENST00000601380.4	protein_coding	13/14	1621/2575	1439/1587	480/528			chr5	TogoVar
ANKK1_chr11_113382779_113405416	113395358	G G	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02630.hp2 HG03516.hp2 HG03540.hp1 HG02630.hp2 HG03516.hp2 HG03540.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0019 a0005c0006t0001g0019	3	400	0.0075	0	c.633 others(5): Show c.633-1G>T		ANKK1	ENSG00000170209.5	transcript	ENST00000303941.4	protein_coding	3/7						chr11	TogoVar
ANKMY1_chr2_240474422_240562988	240557353	C C	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00733.hp2 HG01109.hp2 others(24): Show HG00099.hp1 HG00733.hp2 HG01109.hp2 HG01168.hp2 HG01169.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01891.hp1 HG02273.hp2 HG02451.hp1 HG02886.hp2 HG03041.hp1 HG03139.hp2 HG03540.hp1 HG04199.hp2 NA18906.hp1 NA18948.hp2 NA18971.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0006 a0003c0004 a0003c0010 others(2): Show a0001c0006 a0003c0004 a0003c0010 a0003c0036 a0006c0007	a0001c0006t0001 a0003c0004t0001 a0003c0010t0001 others(2): Show a0001c0006t0001 a0003c0004t0001 a0003c0010t0001 a0003c0036t0005 a0006c0007t0001	a0001c0006t0001g0274 a0001c0006t0001g0276 a0003c0004t0001g0253 others(24): Show a0001c0006t0001g0274 a0001c0006t0001g0276 a0003c0004t0001g0253 a0003c0004t0001g0254 a0003c0004t0001g0256 a0003c0004t0001g0257 a0003c0004t0001g0258 a0003c0004t0001g0259 a0003c0004t0001g0260 a0003c0004t0001g0261 a0003c0004t0001g0264 a0003c0004t0001g0265 a0003c0004t0001g0266 a0003c0004t0001g0267 a0003c0004t0001g0270 a0003c0004t0001g0271 a0003c0004t0001g0273 a0003c0010t0001g0255 a0003c0010t0001g0272 a0003c0010t0001g0275 a0003c0010t0001g0294 a0003c0036t0005g0013 a0006c0007t0001g0262 a0006c0007t0001g0263 a0006c0007t0001g0268 a0006c0007t0001g0269 a0006c0007t0001g0295	27	320	0.0844	0	c.-17 others(5): Show c.-17-1G>T		ANKMY1	ENSG00000144504.16	transcript	ENST00000401804.6	protein_coding	1/17						chr2	TogoVar
ANKRD36_chr2_97108153_97269521	97207905	TTTATTAT others(1859): Show TTTATTATTTCATTTGAAATTCCATTCAGGCTACAAGTGCCGAGAAAGAT TCTGTTTTGAATATAGCCAGAGGAAAAAAGTATGGAGAAAAAACTAAGAG AGGTAATTTTGAAAAGAGATTTAATGTCATGTTCAGTGCAGATAGATAAG AAGTTCTCTTCCCTGAATAAATCAGCGGGGGGCTCGTTGAAGCTGCACAT TCTGATTCAGCAGTCCTGAGATTCTTCATTTCAAATAAGTTCTTGGGTGA TGCTGATGCTGCTGGTCTGGAACATGATCTTCGCAGTAAGATTATACACT TCCCCACATTGAAATTGGGAAGAAGAATTATGGAGAGCAGTTCAAGGCAT AAGGGGCTCTGGGGAACAACATAATTTTGCTTTAATTCTCCAGCTTGTTT TCAGTAAGGGTGGAAGGAGAAAGAGAGGAAGTATAGAATTTACACACTTC AGCTCGTACTGCCAAGAAAAGACAGAAAGCTTGTTGTAACAACCCGTAGA CACTGTGGGAGAACTAAGGAGACCCCTGGTGTAGCAACAGTTTTCCTAAG GAAGACGGATTGTGAGGCAGGAAGGTGTGAAAAGAGGAAGTCATTTATAT AATTTTGGAGTTTCTGCTGAGGAAACCTGAGTGAACTCACTTCAGATGCA TTTGGAATATTTTCATAAAAAATATTTGCTTTTAGCTGCTCCAGGAACTA CTGGAAGCAGGAAACAGTGGTATAATTGGAATACACCACACTGACCCATT ACTCCTCTTGGTTACTAGGAGGCATCAGAGATACATGTTTTGTTGATTTT AGTTATAAAAATGAGATAATCTTGAATGTGAATAAATTTGCTTCCTTGTT CAAGGAGCTACCTCGTGGATAAAATAGCTATTTAATGTAACTTCTTTAGA GAATAACACGATACTCCCAACCAGACTATTTTAGACACAAGAATGATGTT GAATTCTAATTAACTCCTAAAATAGTCATTTTCAATGAATATTGCAGTGA TTTCTGAATGAAAAGCTGATTAATATCTAATGCTTGTAGCCATTTTACTT TGTAGACGTATGTCAAAGTTGATAATTGATGATATTTTTATTGAGGCTAA TATATTATCCTTTGGTGCCAAGAGTGGATGAAGAAGCTTTCGGAAGGCTA AACTAGTGGATACAAGAAACTTAGGCAAATTATTACACTACATGGGTGTG AAAGATAATGAATATTATCTACTAGGTATCAGCAAACAGATATCCAAGGT GATCAATTCAGGACACTTCCACTGAAGAGATGTGAAGTGTACTTTCAACT GGAGTGTCATTGTAATTGTGTGCCTTCTCATTTATTGGGCAAGTTAAAGA GCATGAAGAATGTTTGTAGTATAATGGTGTAAATCCTTTTGATTTGTTGC ATGAAAGACATATGGGATCATGTAGCACCTGTTTTGACATTGATTCTCAC GTATATGAGTTGTTCCTCTGATTTTAGATCACATTTGTCCTCATCACTCG GCATATCCACATTGAGATTGACACGGTTTTATTTTAGTTTTTGACACGTG ACAAATCATATAATGTTTGAAATTGTAAGGGTATATTTCATGGAGCCTGT GTTCCCTTTTTCAGTGTATTTCTGTCATGTTCTGATCCCCAGACACAAAG TAGAAGCCATCAAAGCCTCCACTAATACAGGCAGGAGGACAGAGGTTGAT GCTAACACTGTGTGAATGTATGGATAACTTTATCATATTTACATGTGAGT GATTATGTATCCCTTTTGCTTTTCAGTGTCTTCTCGGAAAAAACCAGCCT TGAAGGTAATGAAACTCTCATTCATATTGTGAGCTAGTAAACGTATAGCC TATGAAAGATACCTTAC	T T	exon_loss_variant exon_loss_variant	HIGH	HG00099.hp1 HG00423.hp1 HG01099.hp2 others(46): Show HG00099.hp1 HG00423.hp1 HG01099.hp2 HG01123.hp2 HG01175.hp1 HG01257.hp2 HG01261.hp2 HG01515.hp1 HG01981.hp1 HG02055.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03225.hp2 HG03486.hp2 HG03540.hp1 HG03579.hp2 HG03927.hp2 HG06807.hp1 NA18945.hp1 NA18951.hp1 NA18961.hp1 NA18991.hp2 NA19030.hp2 NA19068.hp1 NA19072.hp1 NA20129.hp1 NA20129.hp2	a0002 a0004 a0011 others(7): Show a0002 a0004 a0011 a0018 a0020 a0021 a0030 a0035 a0043 a0044	a0002c0002 a0004c0005 a0004c0024 others(8): Show a0002c0002 a0004c0005 a0004c0024 a0011c0011 a0018c0018 a0020c0022 a0021c0021 a0030c0052 a0035c0062 a0043c0039 a0044c0038	a0002c0002t0001 a0002c0002t0002 a0004c0005t0004 others(11): Show a0002c0002t0001 a0002c0002t0002 a0004c0005t0004 a0004c0005t0008 a0004c0005t0010 a0004c0024t0004 a0011c0011t0002 a0018c0018t0002 a0020c0022t0002 a0021c0021t0002 a0030c0052t0002 a0035c0062t0004 a0043c0039t0001 a0044c0038t0001	a0002c0002t0001g0017 a0002c0002t0001g0052 a0002c0002t0001g0053 others(46): Show a0002c0002t0001g0017 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0183 a0002c0002t0002g0031 a0002c0002t0002g0132 a0002c0002t0002g0209 a0004c0005t0004g0016 a0004c0005t0004g0032 a0004c0005t0004g0033 a0004c0005t0004g0036 a0004c0005t0004g0037 a0004c0005t0004g0039 a0004c0005t0008g0035 a0004c0005t0008g0041 a0004c0005t0010g0034 a0004c0024t0004g0038 a0004c0024t0004g0040 a0011c0011t0002g0011 a0011c0011t0002g0045 a0011c0011t0002g0046 a0011c0011t0002g0047 a0011c0011t0002g0049 a0018c0018t0002g0043 a0018c0018t0002g0044 a0018c0018t0002g0048 a0020c0022t0002g0015 a0020c0022t0002g0030 a0021c0021t0002g0012 a0021c0021t0002g0013 a0030c0052t0002g0128 a0035c0062t0004g0042 a0043c0039t0001g0008 a0044c0038t0001g0067	49	212	0.2311	-1866	c.319 others(15): Show c.3193-14_3295-15del		ANKRD36	ENSG00000135976.21	transcript	ENST00000420699.9	protein_coding	54/76					INFO_REALIGN_3_PRIME	chr2	TogoVar
ANKRD36_chr2_97108153_97269521	97224796	A A	AT AT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00423.hp1 HG00423.hp2 others(144): Show HG00099.hp1 HG00423.hp1 HG00423.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00741.hp1 HG01070.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18941.hp1 NA18941.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18961.hp1 NA18965.hp1 NA18965.hp2 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18983.hp1 NA18983.hp2 NA18991.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19072.hp1 NA19072.hp2 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19085.hp1 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0000 a0001 a0002 others(32): Show a0000 a0001 a0002 a0004 a0005 a0008 a0010 a0011 a0012 a0013 a0016 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0026 a0029 a0030 a0035 a0036 a0037 a0040 a0041 a0042 a0043 a0044 a0045 a0047 a0048 a0049 a0051 a0052	a0000c0016 a0001c0001 a0001c0036 others(40): Show a0000c0016 a0001c0001 a0001c0036 a0001c0044 a0001c0046 a0002c0002 a0004c0005 a0004c0024 a0005c0004 a0008c0006 a0010c0012 a0010c0059 a0011c0011 a0012c0010 a0013c0013 a0013c0025 a0016c0023 a0016c0053 a0018c0018 a0019c0031 a0019c0032 a0020c0022 a0021c0021 a0022c0020 a0023c0019 a0024c0060 a0026c0058 a0029c0055 a0030c0052 a0035c0062 a0036c0041 a0037c0040 a0040c0047 a0041c0045 a0042c0043 a0043c0039 a0044c0038 a0045c0049 a0047c0033 a0048c0030 a0049c0029 a0051c0027 a0052c0026	a0000c0016t0006 a0001c0001t0001 a0001c0001t0002 others(46): Show a0000c0016t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0036t0001 a0001c0044t0001 a0001c0046t0002 a0002c0002t0001 a0002c0002t0002 a0004c0005t0004 a0004c0005t0008 a0004c0005t0010 a0004c0024t0004 a0005c0004t0002 a0005c0004t0005 a0008c0006t0003 a0010c0012t0001 a0010c0059t0001 a0011c0011t0002 a0012c0010t0002 a0013c0013t0003 a0013c0025t0003 a0016c0023t0001 a0016c0053t0001 a0018c0018t0002 a0019c0031t0007 a0019c0032t0007 a0020c0022t0002 a0021c0021t0002 a0022c0020t0001 a0023c0019t0003 a0024c0060t0002 a0026c0058t0001 a0029c0055t0002 a0030c0052t0002 a0035c0062t0004 a0036c0041t0001 a0037c0040t0002 a0040c0047t0001 a0041c0045t0001 a0042c0043t0002 a0043c0039t0001 a0044c0038t0001 a0045c0049t0001 a0047c0033t0002 a0048c0030t0002 a0049c0029t0001 a0051c0027t0001 a0052c0026t0003	a0000c0016t0006g0018 a0000c0016t0006g0076 a0000c0016t0006g0108 others(144): Show a0000c0016t0006g0018 a0000c0016t0006g0076 a0000c0016t0006g0108 a0000c0016t0006g0119 a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0131 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0050 a0001c0001t0007g0100 a0001c0036t0001g0080 a0001c0044t0001g0001 a0001c0046t0002g0051 a0002c0002t0001g0017 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0183 a0002c0002t0002g0031 a0002c0002t0002g0132 a0002c0002t0002g0209 a0004c0005t0004g0016 a0004c0005t0004g0032 a0004c0005t0004g0033 a0004c0005t0004g0036 a0004c0005t0004g0037 a0004c0005t0004g0039 a0004c0005t0008g0035 a0004c0005t0008g0041 a0004c0005t0010g0034 a0004c0024t0004g0038 a0004c0024t0004g0040 a0005c0004t0002g0002 a0005c0004t0002g0129 a0005c0004t0002g0130 a0005c0004t0005g0199 a0005c0004t0005g0200 a0005c0004t0005g0201 a0005c0004t0005g0202 a0005c0004t0005g0203 a0005c0004t0005g0204 a0005c0004t0005g0205 a0008c0006t0003g0184 a0008c0006t0003g0190 a0008c0006t0003g0191 a0008c0006t0003g0192 a0008c0006t0003g0194 a0008c0006t0003g0195 a0008c0006t0003g0196 a0008c0006t0003g0208 a0010c0012t0001g0072 a0010c0012t0001g0075 a0010c0012t0001g0083 a0010c0012t0001g0092 a0010c0012t0001g0103 a0010c0059t0001g0090 a0011c0011t0002g0011 a0011c0011t0002g0045 a0011c0011t0002g0046 a0011c0011t0002g0047 a0011c0011t0002g0049 a0012c0010t0002g0026 a0012c0010t0002g0027 a0012c0010t0002g0028 a0012c0010t0002g0029 a0012c0010t0002g0206 a0013c0013t0003g0186 a0013c0013t0003g0187 a0013c0013t0003g0188 a0013c0013t0003g0189 a0013c0025t0003g0185 a0016c0023t0001g0091 a0016c0023t0001g0093 a0016c0053t0001g0104 a0018c0018t0002g0043 a0018c0018t0002g0044 a0018c0018t0002g0048 a0019c0031t0007g0126 a0019c0032t0007g0127 a0020c0022t0002g0015 a0020c0022t0002g0030 a0021c0021t0002g0012 a0021c0021t0002g0013 a0022c0020t0001g0097 a0022c0020t0001g0098 a0023c0019t0003g0197 a0023c0019t0003g0198 a0024c0060t0002g0024 a0026c0058t0001g0074 a0029c0055t0002g0023 a0030c0052t0002g0128 a0035c0062t0004g0042 a0036c0041t0001g0113 a0037c0040t0002g0211 a0040c0047t0001g0082 a0041c0045t0001g0110 a0042c0043t0002g0210 a0043c0039t0001g0008 a0044c0038t0001g0067 a0045c0049t0001g0120 a0047c0033t0002g0025 a0048c0030t0002g0003 a0049c0029t0001g0122 a0051c0027t0001g0071 a0052c0026t0003g0193	147	212	0.6934	1	c.387 others(7): Show c.3878-3dupT		ANKRD36	ENSG00000135976.21	transcript	ENST00000420699.9	protein_coding	66/75					INFO_REALIGN_3_PRIME	chr2	TogoVar
ANKRD36_chr2_97108153_97269521	97264169	TAGCATTG others(84): Show TAGCATTGAATCTACTTATGAATACGGTACATATCTCTTTTTGTTTCATT CTTCGCTTTCTTTCATCAGATATGGACATTTCTGGAATTAAG	T T	splice_acceptor_variant others(3): Show splice_acceptor_variant splice_region_variant 3_prime_UTR_variant intron_variant	HIGH	HG00099.hp1 HG00423.hp1 HG00597.hp2 others(64): Show HG00099.hp1 HG00423.hp1 HG00597.hp2 HG00609.hp1 HG00642.hp2 HG01099.hp2 HG01123.hp2 HG01243.hp1 HG01261.hp2 HG01515.hp1 HG01891.hp1 HG01891.hp2 HG01981.hp1 HG02040.hp2 HG02071.hp1 HG02083.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02922.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18941.hp2 NA18945.hp1 NA18951.hp1 NA18951.hp2 NA18961.hp1 NA18965.hp1 NA18971.hp2 NA18973.hp2 NA18983.hp1 NA18991.hp2 NA18999.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19085.hp1 NA19088.hp1 NA19240.hp1 NA19240.hp2	a0001 a0002 a0004 others(17): Show a0001 a0002 a0004 a0005 a0008 a0011 a0012 a0013 a0018 a0020 a0021 a0023 a0024 a0029 a0035 a0037 a0042 a0047 a0048 a0052	a0001c0001 a0001c0046 a0002c0002 others(20): Show a0001c0001 a0001c0046 a0002c0002 a0004c0005 a0004c0024 a0005c0004 a0008c0006 a0011c0011 a0012c0010 a0013c0013 a0013c0025 a0018c0018 a0020c0022 a0021c0021 a0023c0019 a0024c0060 a0029c0055 a0035c0062 a0037c0040 a0042c0043 a0047c0033 a0048c0030 a0052c0026	a0001c0001t0002 a0001c0046t0002 a0002c0002t0002 others(22): Show a0001c0001t0002 a0001c0046t0002 a0002c0002t0002 a0004c0005t0004 a0004c0005t0010 a0004c0024t0004 a0005c0004t0002 a0005c0004t0005 a0008c0006t0003 a0011c0011t0002 a0012c0010t0002 a0013c0013t0003 a0013c0025t0003 a0018c0018t0002 a0020c0022t0002 a0021c0021t0002 a0023c0019t0003 a0024c0060t0002 a0029c0055t0002 a0035c0062t0004 a0037c0040t0002 a0042c0043t0002 a0047c0033t0002 a0048c0030t0002 a0052c0026t0003	a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 others(64): Show a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0050 a0001c0046t0002g0051 a0002c0002t0002g0031 a0002c0002t0002g0132 a0002c0002t0002g0209 a0004c0005t0004g0016 a0004c0005t0004g0032 a0004c0005t0004g0033 a0004c0005t0004g0036 a0004c0005t0004g0037 a0004c0005t0004g0039 a0004c0005t0010g0034 a0004c0024t0004g0038 a0004c0024t0004g0040 a0005c0004t0002g0002 a0005c0004t0002g0129 a0005c0004t0002g0130 a0005c0004t0005g0199 a0005c0004t0005g0200 a0005c0004t0005g0201 a0005c0004t0005g0202 a0005c0004t0005g0203 a0005c0004t0005g0204 a0005c0004t0005g0205 a0008c0006t0003g0184 a0008c0006t0003g0190 a0008c0006t0003g0191 a0008c0006t0003g0192 a0008c0006t0003g0194 a0008c0006t0003g0195 a0008c0006t0003g0196 a0008c0006t0003g0208 a0011c0011t0002g0011 a0011c0011t0002g0045 a0011c0011t0002g0046 a0011c0011t0002g0047 a0011c0011t0002g0049 a0012c0010t0002g0026 a0012c0010t0002g0027 a0012c0010t0002g0028 a0012c0010t0002g0029 a0012c0010t0002g0206 a0013c0013t0003g0186 a0013c0013t0003g0187 a0013c0013t0003g0188 a0013c0013t0003g0189 a0013c0025t0003g0185 a0018c0018t0002g0043 a0018c0018t0002g0044 a0018c0018t0002g0048 a0020c0022t0002g0015 a0020c0022t0002g0030 a0021c0021t0002g0012 a0021c0021t0002g0013 a0023c0019t0003g0197 a0023c0019t0003g0198 a0024c0060t0002g0024 a0029c0055t0002g0023 a0035c0062t0004g0042 a0037c0040t0002g0211 a0042c0043t0002g0210 a0047c0033t0002g0025 a0048c0030t0002g0003 a0052c0026t0003g0193	67	212	0.3160	-91	c.7- others(100): Show c.7-65_*32delATTGAATCTACTTATGAATACGGTACATATCTCTTT TTGTTTCATTCTTCGCTTTCTTTCATCAGATATGGACATTTCTGGAATTA AGAGC		ANKRD36	ENSG00000135976.21	transcript	ENST00000420699.9	protein_coding	76/76				14097	INFO_REALIGN_3_PRIME	chr2	TogoVar
ANO7_chr2_241183677_241230976	241223950	TCA TCA	T T	frameshift_variant frameshift_variant	HIGH	HG01099.hp1 HG01884.hp2 HG01891.hp2 others(29): Show HG01099.hp1 HG01884.hp2 HG01891.hp2 HG02109.hp1 HG02257.hp1 HG02258.hp1 HG02451.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA19043.hp1	a0006 a0009 a0029 a0006 a0009 a0029	a0006c0006 a0006c0018 a0009c0016 others(3): Show a0006c0006 a0006c0018 a0009c0016 a0009c0017 a0009c0060 a0029c0068	a0006c0006t0001 a0006c0006t0003 a0006c0006t0009 others(9): Show a0006c0006t0001 a0006c0006t0003 a0006c0006t0009 a0006c0006t0017 a0006c0018t0001 a0006c0018t0017 a0009c0016t0001 a0009c0016t0008 a0009c0017t0001 a0009c0017t0008 a0009c0060t0001 a0029c0068t0001	a0006c0006t0001g0007 a0006c0006t0001g0106 a0006c0006t0001g0261 others(29): Show a0006c0006t0001g0007 a0006c0006t0001g0106 a0006c0006t0001g0261 a0006c0006t0001g0262 a0006c0006t0003g0112 a0006c0006t0009g0007 a0006c0006t0009g0101 a0006c0006t0009g0105 a0006c0006t0009g0107 a0006c0006t0009g0108 a0006c0006t0009g0111 a0006c0006t0009g0113 a0006c0006t0017g0265 a0006c0018t0001g0155 a0006c0018t0001g0229 a0006c0018t0001g0360 a0006c0018t0001g0364 a0006c0018t0017g0158 a0009c0016t0001g0148 a0009c0016t0001g0260 a0009c0016t0008g0109 a0009c0016t0008g0150 a0009c0016t0008g0358 a0009c0016t0008g0359 a0009c0016t0008g0367 a0009c0017t0001g0094 a0009c0017t0001g0095 a0009c0017t0008g0092 a0009c0017t0008g0093 a0009c0017t0008g0097 a0009c0060t0001g0264 a0029c0068t0001g0020	32	396	0.0808	-2	c.257 others(11): Show c.2579_2580delCA	p.Ser others(5): Show p.Ser860fs	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding	24/25	2676/4560	2579/2640	860/879			chr2	TogoVar
ARPC5L_chr9_124857130_124882733	124862400	A A	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00140.hp2 HG00423.hp2 HG00438.hp1 others(111): Show HG00140.hp2 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01256.hp1 HG01261.hp2 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp2 HG01975.hp1 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG02056.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02523.hp2 HG02602.hp1 HG02698.hp1 HG02738.hp2 HG02886.hp2 HG02895.hp1 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03710.hp2 HG03927.hp2 NA18522.hp2 NA18612.hp1 NA18940.hp1 NA18942.hp1 NA18943.hp1 NA18945.hp1 NA18949.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18957.hp2 NA18964.hp1 NA18966.hp1 NA18970.hp1 NA18972.hp1 NA18973.hp2 NA18975.hp1 NA18978.hp2 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18987.hp2 NA18989.hp1 NA18991.hp2 NA18992.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19070.hp2 NA19076.hp1 NA19078.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19088.hp1 NA19240.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0015 others(4): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0015 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0001t0027	a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0019 others(42): Show a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0031 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0010g0002 a0001c0001t0015g0144 a0001c0001t0017g0133 a0001c0001t0021g0132 a0001c0001t0022g0054 a0001c0001t0027g0031	114	404	0.2822	0	c.-98 others(6): Show c.-984+2A>T		ARPC5L	ENSG00000136950.13	transcript	ENST00000353214.6	protein_coding	1/5						chr9	TogoVar
AS3MT_chr10_102864470_102906899	102869497	TCCTGAGT others(29): Show TCCTGAGTCGCAGGCCGAGGAGACAGTGAGTGCGCGC	T T	frameshift_variant others(2): Show frameshift_variant start_lost splice_region_variant	HIGH	HG00099.hp1 HG00544.hp1 HG00597.hp1 others(170): Show HG00099.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02896.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03491.hp2 HG03516.hp1 HG03540.hp2 HG03688.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04228.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18954.hp2 NA18957.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18968.hp2 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18982.hp1 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp2 NA19077.hp1 NA19078.hp2 NA19082.hp2 NA19084.hp1 NA19087.hp1 NA19089.hp2 NA19090.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0011 a0002c0012	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(28): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0025 a0001c0001t0026 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0002t0004 a0001c0002t0018 a0001c0002t0019 a0001c0002t0023 a0001c0002t0024 a0001c0003t0004 a0001c0004t0007 a0001c0006t0006 a0001c0007t0004 a0001c0008t0003 a0001c0011t0002 a0002c0012t0006	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0007 others(163): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0060 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0119 a0001c0001t0002g0122 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0003g0001 a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0106 a0001c0001t0003g0177 a0001c0001t0004g0027 a0001c0001t0006g0015 a0001c0001t0006g0102 a0001c0001t0006g0163 a0001c0001t0006g0164 a0001c0001t0006g0165 a0001c0001t0006g0166 a0001c0001t0006g0169 a0001c0001t0006g0170 a0001c0001t0006g0172 a0001c0001t0006g0173 a0001c0001t0006g0174 a0001c0001t0006g0175 a0001c0001t0007g0002 a0001c0001t0007g0107 a0001c0001t0007g0114 a0001c0001t0007g0115 a0001c0001t0007g0116 a0001c0001t0007g0117 a0001c0001t0007g0118 a0001c0001t0007g0120 a0001c0001t0007g0124 a0001c0001t0007g0129 a0001c0001t0007g0130 a0001c0001t0007g0138 a0001c0001t0008g0034 a0001c0001t0008g0035 a0001c0001t0008g0042 a0001c0001t0008g0043 a0001c0001t0008g0045 a0001c0001t0008g0048 a0001c0001t0008g0049 a0001c0001t0008g0050 a0001c0001t0008g0051 a0001c0001t0010g0070 a0001c0001t0010g0121 a0001c0001t0010g0146 a0001c0001t0010g0256 a0001c0001t0010g0261 a0001c0001t0010g0267 a0001c0001t0010g0269 a0001c0001t0012g0002 a0001c0001t0012g0003 a0001c0001t0012g0008 a0001c0001t0012g0123 a0001c0001t0012g0134 a0001c0001t0012g0151 a0001c0001t0014g0001 a0001c0001t0014g0061 a0001c0001t0014g0079 a0001c0001t0015g0059 a0001c0001t0015g0142 a0001c0001t0015g0152 a0001c0001t0016g0044 a0001c0001t0016g0052 a0001c0001t0020g0168 a0001c0001t0021g0171 a0001c0001t0022g0016 a0001c0001t0025g0046 a0001c0001t0026g0047 a0001c0001t0030g0005 a0001c0001t0031g0268 a0001c0001t0032g0131 a0001c0002t0004g0017 a0001c0002t0004g0018 a0001c0002t0004g0019 a0001c0002t0004g0021 a0001c0002t0004g0022 a0001c0002t0004g0023 a0001c0002t0004g0024 a0001c0002t0004g0025 a0001c0002t0004g0028 a0001c0002t0004g0029 a0001c0002t0004g0032 a0001c0002t0004g0033 a0001c0002t0004g0037 a0001c0002t0004g0038 a0001c0002t0004g0039 a0001c0002t0004g0040 a0001c0002t0004g0041 a0001c0002t0004g0053 a0001c0002t0004g0054 a0001c0002t0004g0055 a0001c0002t0004g0057 a0001c0002t0004g0058 a0001c0002t0018g0030 a0001c0002t0019g0031 a0001c0002t0023g0026 a0001c0002t0024g0056 a0001c0003t0004g0036 a0001c0004t0007g0162 a0001c0006t0006g0176 a0001c0007t0004g0020 a0001c0008t0003g0073 a0001c0011t0002g0132 a0002c0012t0006g0167	173	362	0.4779	-36	c.-19 others(44): Show c.-19_1+16delAGTCGCAGGCCGAGGAGACAGTGAGTGCGCGCCCTG	p.Met others(3): Show p.Met1fs	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding	1/11	105/2450	1/1128	1/375		INFO_REALIGN_3_PRIME	chr10	TogoVar
ASAH2B_chr10_50734936_50764255	50745132	T T	C C	start_lost start_lost	HIGH	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(344): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(59): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0034 a0001c0001t0035 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0068 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0003t0002 a0001c0004t0081	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 others(135): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0044 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0002g0002 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0043 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0003g0004 a0001c0001t0003g0006 a0001c0001t0003g0014 a0001c0001t0003g0019 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0041 a0001c0001t0003g0110 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0115 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0005g0003 a0001c0001t0005g0026 a0001c0001t0005g0027 a0001c0001t0005g0045 a0001c0001t0005g0046 a0001c0001t0005g0048 a0001c0001t0005g0049 a0001c0001t0005g0050 a0001c0001t0006g0003 a0001c0001t0007g0001 a0001c0001t0007g0010 a0001c0001t0007g0024 a0001c0001t0007g0085 a0001c0001t0007g0098 a0001c0001t0008g0002 a0001c0001t0008g0116 a0001c0001t0008g0126 a0001c0001t0010g0004 a0001c0001t0010g0040 a0001c0001t0010g0042 a0001c0001t0011g0004 a0001c0001t0012g0016 a0001c0001t0013g0002 a0001c0001t0014g0001 a0001c0001t0017g0001 a0001c0001t0018g0025 a0001c0001t0019g0002 a0001c0001t0019g0011 a0001c0001t0019g0117 a0001c0001t0020g0010 a0001c0001t0021g0007 a0001c0001t0022g0004 a0001c0001t0023g0001 a0001c0001t0025g0004 a0001c0001t0025g0014 a0001c0001t0026g0029 a0001c0001t0027g0059 a0001c0001t0027g0060 a0001c0001t0029g0078 a0001c0001t0029g0080 a0001c0001t0034g0007 a0001c0001t0035g0114 a0001c0001t0037g0106 a0001c0001t0038g0001 a0001c0001t0039g0001 a0001c0001t0040g0079 a0001c0001t0041g0001 a0001c0001t0042g0044 a0001c0001t0043g0001 a0001c0001t0044g0036 a0001c0001t0045g0001 a0001c0001t0046g0012 a0001c0001t0047g0081 a0001c0001t0048g0111 a0001c0001t0049g0001 a0001c0001t0050g0122 a0001c0001t0051g0002 a0001c0001t0052g0015 a0001c0001t0053g0002 a0001c0001t0054g0062 a0001c0001t0055g0053 a0001c0001t0056g0003 a0001c0001t0057g0047 a0001c0001t0058g0077 a0001c0001t0059g0003 a0001c0001t0060g0058 a0001c0001t0061g0003 a0001c0001t0068g0061 a0001c0001t0072g0019 a0001c0001t0073g0001 a0001c0001t0074g0057 a0001c0001t0075g0033 a0001c0001t0076g0072 a0001c0001t0077g0007 a0001c0001t0078g0007 a0001c0001t0079g0007 a0001c0001t0080g0033 a0001c0003t0002g0002 a0001c0004t0081g0054	347	414	0.8382	0	c.2T> others(1): Show c.2T>C	p.Met others(2): Show p.Met1?	ASAH2B	ENSG00000204147.11	transcript	ENST00000647317.2	protein_coding	3/6	149/5145	2/483	1/160			chr10	TogoVar
ATP8B3_chr19_1777075_1817276	1783028	T T	C C	stop_lost stop_lost	HIGH	HG01070.hp1 HG01071.hp1 HG01192.hp2 others(25): Show HG01070.hp1 HG01071.hp1 HG01192.hp2 HG01258.hp1 HG01884.hp2 HG02055.hp2 HG02145.hp1 HG02258.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp2 HG02735.hp1 HG02895.hp2 HG03098.hp2 HG03209.hp1 HG03225.hp2 HG03540.hp1 HG03688.hp1 HG04184.hp2 HG04204.hp1 NA18522.hp2 NA18906.hp2 NA19043.hp1 NA20300.hp1 NA20805.hp1	a0000 a0000	a0000c0020 a0000c0023 a0000c0027 others(15): Show a0000c0020 a0000c0023 a0000c0027 a0000c0029 a0000c0032 a0000c0035 a0000c0038 a0000c0040 a0000c0043 a0000c0046 a0000c0050 a0000c0054 a0000c0058 a0000c0059 a0000c0060 a0000c0063 a0000c0065 a0000c0071	a0000c0020t0007 a0000c0020t0008 a0000c0023t0007 others(16): Show a0000c0020t0007 a0000c0020t0008 a0000c0023t0007 a0000c0027t0008 a0000c0029t0007 a0000c0032t0007 a0000c0035t0007 a0000c0038t0007 a0000c0040t0008 a0000c0043t0008 a0000c0046t0008 a0000c0050t0008 a0000c0054t0007 a0000c0058t0008 a0000c0059t0017 a0000c0060t0007 a0000c0063t0007 a0000c0065t0007 a0000c0071t0007	a0000c0020t0007g0008 a0000c0020t0007g0050 a0000c0020t0007g0075 others(25): Show a0000c0020t0007g0008 a0000c0020t0007g0050 a0000c0020t0007g0075 a0000c0020t0008g0378 a0000c0023t0007g0036 a0000c0023t0007g0048 a0000c0023t0007g0106 a0000c0027t0008g0250 a0000c0027t0008g0263 a0000c0029t0007g0031 a0000c0029t0007g0052 a0000c0032t0007g0129 a0000c0032t0007g0130 a0000c0035t0007g0165 a0000c0035t0007g0166 a0000c0038t0007g0178 a0000c0038t0007g0179 a0000c0040t0008g0265 a0000c0043t0008g0247 a0000c0046t0008g0358 a0000c0050t0008g0236 a0000c0054t0007g0022 a0000c0058t0008g0379 a0000c0059t0017g0091 a0000c0060t0007g0135 a0000c0063t0007g0035 a0000c0065t0007g0136 a0000c0071t0007g0170	28	390	0.0718	0	c.390 others(4): Show c.3903A>G	p.Ter others(12): Show p.Ter1301Trpext*?	ATP8B3	ENSG00000130270.16	transcript	ENST00000310127.10	protein_coding	29/29	4142/5095	3903/3903	1301/1300			chr19	TogoVar
BDP1_chr5_71450651_71572820	71495239	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00733.hp1 HG02622.hp1 HG03130.hp2 others(2): Show HG00733.hp1 HG02622.hp1 HG03130.hp2 HG03453.hp2 HG03540.hp1	a0016 a0017 a0041 a0016 a0017 a0041	a0016c0014 a0017c0017 a0041c0047 a0016c0014 a0017c0017 a0041c0047	a0016c0014t0001 a0017c0017t0009 a0041c0047t0001 a0016c0014t0001 a0017c0017t0009 a0041c0047t0001	a0016c0014t0001g0004 a0016c0014t0001g0005 a0017c0017t0009g0115 others(2): Show a0016c0014t0001g0004 a0016c0014t0001g0005 a0017c0017t0009g0115 a0017c0017t0009g0116 a0041c0047t0001g0228	5	325	0.0154	1	c.164 others(7): Show c.1641-3dupT		BDP1	ENSG00000145734.20	transcript	ENST00000358731.9	protein_coding	11/38					INFO_REALIGN_3_PRIME	chr5	TogoVar
BPHL_chr6_3113711_3158578	3127410	T T	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01891.hp2 HG02055.hp1 HG02109.hp2 others(14): Show HG01891.hp2 HG02055.hp1 HG02109.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02896.hp1 HG03195.hp2 HG03486.hp2 HG03540.hp1 HG06807.hp1 NA18906.hp2 NA18957.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0013 a0001c0005t0005	a0001c0001t0001g0017 a0001c0001t0001g0147 a0001c0001t0002g0018 others(9): Show a0001c0001t0001g0017 a0001c0001t0001g0147 a0001c0001t0002g0018 a0001c0001t0002g0038 a0001c0001t0002g0228 a0001c0001t0002g0260 a0001c0001t0004g0044 a0001c0001t0005g0047 a0001c0001t0009g0037 a0001c0001t0013g0049 a0001c0005t0005g0019 a0001c0005t0005g0226	17	350	0.0486	0	c.378 others(5): Show c.378+2T>C		BPHL	ENSG00000137274.13	transcript	ENST00000380379.10	protein_coding	3/6						chr6	TogoVar
BPIFA2_chr20_33163159_33186412	33169148	G G	A A	start_lost start_lost	HIGH	HG01884.hp1 HG02257.hp2 HG02258.hp2 others(6): Show HG01884.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02809.hp1 HG03195.hp1 HG03471.hp2 HG03540.hp1 NA19043.hp2	a0003 a0003	a0003c0006 a0003c0007 a0003c0009 a0003c0006 a0003c0007 a0003c0009	a0003c0006t0001 a0003c0006t0002 a0003c0007t0001 others(1): Show a0003c0006t0001 a0003c0006t0002 a0003c0007t0001 a0003c0009t0003	a0003c0006t0001g0025 a0003c0006t0001g0026 a0003c0006t0002g0014 others(5): Show a0003c0006t0001g0025 a0003c0006t0001g0026 a0003c0006t0002g0014 a0003c0007t0001g0078 a0003c0007t0001g0079 a0003c0007t0001g0081 a0003c0009t0003g0077 a0003c0009t0003g0080	9	378	0.0238	0	c.3G> others(1): Show c.3G>A	p.Met others(2): Show p.Met1?	BPIFA2	ENSG00000131050.11	transcript	ENST00000354932.6	protein_coding	2/9	69/1042	3/750	1/249			chr20	TogoVar
BRIX1_chr5_34910711_34930996	34925207	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00280.hp1 HG01070.hp1 HG01081.hp1 others(77): Show HG00280.hp1 HG01070.hp1 HG01081.hp1 HG01081.hp2 HG01168.hp1 HG01169.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01928.hp1 HG01943.hp1 HG02004.hp1 HG02055.hp2 HG02056.hp1 HG02080.hp1 HG02109.hp1 HG02148.hp2 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02293.hp2 HG02486.hp1 HG02523.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp2 HG03831.hp1 HG03927.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18950.hp1 NA18950.hp2 NA18956.hp1 NA18970.hp2 NA18972.hp2 NA18974.hp1 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18988.hp2 NA18990.hp1 NA18992.hp2 NA18998.hp2 NA19004.hp1 NA19004.hp2 NA19030.hp2 NA19060.hp2 NA19064.hp2 NA19080.hp2 NA19240.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0001c0001t0001 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(26): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0046 a0001c0001t0001g0058 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0087 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0123 a0001c0002t0001g0010 a0001c0002t0001g0014 a0001c0002t0001g0050 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0002c0003t0001g0051 a0002c0003t0001g0052	80	440	0.1818	1	c.793 others(6): Show c.793-3dupT		BRIX1	ENSG00000113460.13	transcript	ENST00000336767.6	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
BTNL2_chr6_32388339_32412181	32403192	TG TG	T T	frameshift_variant frameshift_variant	HIGH	HG00423.hp1 HG00673.hp1 HG00738.hp2 others(66): Show HG00423.hp1 HG00673.hp1 HG00738.hp2 HG01123.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01346.hp2 HG01884.hp2 HG01952.hp2 HG02027.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp2 HG02280.hp2 HG02559.hp2 HG02615.hp2 HG02622.hp2 HG02717.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG02976.hp2 HG03017.hp2 HG03098.hp2 HG03209.hp2 HG03516.hp2 HG03540.hp2 HG03704.hp2 NA18522.hp1 NA18522.hp2 NA18940.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18953.hp1 NA18973.hp2 NA18978.hp2 NA18981.hp2 NA18983.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18989.hp1 NA18993.hp2 NA18994.hp1 NA19003.hp2 NA19004.hp1 NA19007.hp1 NA19054.hp1 NA19055.hp2 NA19058.hp2 NA19060.hp1 NA19064.hp2 NA19065.hp1 NA19068.hp1 NA19074.hp2 NA19076.hp1 NA19078.hp1 NA19084.hp1 NA19084.hp2 NA19086.hp2 NA19091.hp1 NA19240.hp2 NA20905.hp2	a0003 a0006 a0009 others(1): Show a0003 a0006 a0009 a0011	a0003c0004 a0003c0008 a0003c0021 others(3): Show a0003c0004 a0003c0008 a0003c0021 a0006c0007 a0009c0012 a0011c0020	a0003c0004t0002 a0003c0008t0001 a0003c0021t0002 others(3): Show a0003c0004t0002 a0003c0008t0001 a0003c0021t0002 a0006c0007t0001 a0009c0012t0002 a0011c0020t0002	a0003c0004t0002g0044 a0003c0004t0002g0070 a0003c0004t0002g0071 others(35): Show a0003c0004t0002g0044 a0003c0004t0002g0070 a0003c0004t0002g0071 a0003c0004t0002g0072 a0003c0004t0002g0073 a0003c0004t0002g0074 a0003c0004t0002g0075 a0003c0004t0002g0076 a0003c0004t0002g0077 a0003c0004t0002g0078 a0003c0004t0002g0079 a0003c0004t0002g0080 a0003c0004t0002g0081 a0003c0004t0002g0082 a0003c0004t0002g0083 a0003c0004t0002g0189 a0003c0004t0002g0190 a0003c0004t0002g0191 a0003c0004t0002g0192 a0003c0004t0002g0193 a0003c0004t0002g0194 a0003c0004t0002g0195 a0003c0004t0002g0196 a0003c0004t0002g0197 a0003c0008t0001g0006 a0003c0008t0001g0024 a0003c0008t0001g0122 a0003c0008t0001g0123 a0003c0008t0001g0124 a0003c0008t0001g0125 a0003c0008t0001g0126 a0003c0021t0002g0198 a0006c0007t0001g0005 a0006c0007t0001g0025 a0006c0007t0001g0055 a0006c0007t0001g0127 a0009c0012t0002g0069 a0011c0020t0002g0188	69	453	0.1523	-1	c.451 others(4): Show c.451delC	p.His others(5): Show p.His151fs	BTNL2	ENSG00000204290.11	transcript	ENST00000454136.8	protein_coding	3/8	509/1564	451/1449	151/482			chr6	TogoVar
BZW2_chr7_16641181_16711517	16682767	G G	GT GT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01081.hp2 HG01109.hp1 HG01167.hp2 others(43): Show HG01081.hp2 HG01109.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp1 HG01891.hp1 HG02055.hp1 HG02109.hp1 HG02145.hp1 HG02257.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02809.hp1 HG02886.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03704.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18967.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0002t0003 a0001c0005t0001 a0001c0007t0002	a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0025 others(41): Show a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0113 a0001c0001t0001g0155 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0168 a0001c0001t0001g0283 a0001c0001t0002g0009 a0001c0001t0002g0013 a0001c0001t0002g0078 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0293 a0001c0001t0002g0296 a0001c0001t0002g0323 a0001c0001t0002g0326 a0001c0001t0002g0328 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0337 a0001c0001t0002g0344 a0001c0001t0002g0347 a0001c0001t0002g0363 a0001c0001t0002g0388 a0001c0001t0002g0403 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0282 a0001c0001t0004g0006 a0001c0001t0004g0315 a0001c0001t0004g0316 a0001c0001t0004g0318 a0001c0001t0005g0092 a0001c0001t0005g0093 a0001c0001t0005g0153 a0001c0001t0006g0377 a0001c0001t0008g0317 a0001c0001t0009g0110 a0001c0002t0003g0281 a0001c0005t0001g0026 a0001c0007t0002g0336	46	418	0.1101	1	c.340 others(6): Show c.340-3dupT		BZW2	ENSG00000136261.16	transcript	ENST00000258761.8	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr7	TogoVar
C11orf16_chr11_8915076_8937947	8921341	CAT CAT	C C	frameshift_variant frameshift_variant	HIGH	HG01109.hp2 HG01943.hp1 HG02109.hp1 others(9): Show HG01109.hp2 HG01943.hp1 HG02109.hp1 HG02145.hp2 HG02258.hp2 HG02559.hp1 HG02559.hp2 HG02630.hp1 HG02976.hp1 HG03471.hp1 HG03516.hp2 HG03540.hp2	a0000 a0000	a0000c0007 a0000c0011 a0000c0019 a0000c0007 a0000c0011 a0000c0019	a0000c0007t0001 a0000c0011t0001 a0000c0019t0001 a0000c0007t0001 a0000c0011t0001 a0000c0019t0001	a0000c0007t0001g0031 a0000c0007t0001g0036 a0000c0007t0001g0067 others(6): Show a0000c0007t0001g0031 a0000c0007t0001g0036 a0000c0007t0001g0067 a0000c0007t0001g0069 a0000c0007t0001g0070 a0000c0007t0001g0080 a0000c0007t0001g0100 a0000c0011t0001g0032 a0000c0019t0001g0058	12	410	0.0293	-2	c.137 others(11): Show c.1377_1378delAT	p.Ile others(5): Show p.Ile459fs	C11orf16	ENSG00000176029.14	transcript	ENST00000326053.10	protein_coding	6/7	1443/1866	1377/1404	459/467			chr11	TogoVar
C12orf54_chr12_48477498_48501524	48494980	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01099.hp1 HG01167.hp1 HG02258.hp1 others(34): Show HG01099.hp1 HG01167.hp1 HG02258.hp1 HG02280.hp2 HG02486.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03540.hp1 NA18906.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0001g0091 others(11): Show a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0001g0091 a0001c0001t0001g0100 a0001c0001t0003g0010 a0001c0001t0003g0014 a0001c0001t0003g0087 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0102	37	436	0.0849	0	c.40 others(5): Show c.40+1G>A		C12orf54	ENSG00000177627.11	transcript	ENST00000548364.7	protein_coding	8/8						chr12	TogoVar
C13orf46_chr13_113948705_113979076	113968465	A A	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(403): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0008 a0002c0002 others(5): Show a0001c0001 a0001c0008 a0002c0002 a0003c0003 a0004c0004 a0005c0005 a0006c0007 a0007c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(115): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0001t0102 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0107 a0001c0001t0108 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0008t0001 a0002c0002t0004 a0002c0002t0043 a0002c0002t0044 a0003c0003t0014 a0004c0004t0002 a0004c0004t0025 a0005c0005t0001 a0006c0007t0001 a0007c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(241): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0002g0004 a0001c0001t0002g0010 a0001c0001t0002g0014 a0001c0001t0002g0018 a0001c0001t0002g0030 a0001c0001t0002g0035 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0050 a0001c0001t0002g0054 a0001c0001t0002g0083 a0001c0001t0002g0102 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0125 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0141 a0001c0001t0002g0166 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0180 a0001c0001t0002g0189 a0001c0001t0003g0003 a0001c0001t0003g0032 a0001c0001t0003g0044 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0094 a0001c0001t0003g0143 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0005g0009 a0001c0001t0005g0029 a0001c0001t0005g0080 a0001c0001t0005g0082 a0001c0001t0006g0005 a0001c0001t0006g0098 a0001c0001t0006g0099 a0001c0001t0007g0023 a0001c0001t0007g0048 a0001c0001t0007g0138 a0001c0001t0007g0144 a0001c0001t0007g0164 a0001c0001t0008g0006 a0001c0001t0008g0036 a0001c0001t0009g0056 a0001c0001t0009g0061 a0001c0001t0009g0216 a0001c0001t0009g0232 a0001c0001t0009g0243 a0001c0001t0010g0020 a0001c0001t0010g0045 a0001c0001t0010g0130 a0001c0001t0010g0177 a0001c0001t0011g0017 a0001c0001t0011g0147 a0001c0001t0011g0162 a0001c0001t0011g0163 a0001c0001t0012g0007 a0001c0001t0013g0031 a0001c0001t0013g0085 a0001c0001t0013g0086 a0001c0001t0013g0087 a0001c0001t0013g0088 a0001c0001t0015g0022 a0001c0001t0015g0140 a0001c0001t0015g0142 a0001c0001t0015g0146 a0001c0001t0016g0016 a0001c0001t0016g0137 a0001c0001t0016g0245 a0001c0001t0017g0211 a0001c0001t0018g0011 a0001c0001t0019g0075 a0001c0001t0019g0076 a0001c0001t0019g0077 a0001c0001t0019g0078 a0001c0001t0020g0015 a0001c0001t0021g0049 a0001c0001t0021g0134 a0001c0001t0022g0053 a0001c0001t0022g0168 a0001c0001t0022g0182 a0001c0001t0023g0038 a0001c0001t0023g0115 a0001c0001t0024g0021 a0001c0001t0025g0046 a0001c0001t0026g0024 a0001c0001t0027g0190 a0001c0001t0027g0192 a0001c0001t0028g0059 a0001c0001t0029g0037 a0001c0001t0030g0097 a0001c0001t0030g0101 a0001c0001t0031g0033 a0001c0001t0032g0034 a0001c0001t0033g0095 a0001c0001t0033g0100 a0001c0001t0034g0055 a0001c0001t0035g0052 a0001c0001t0036g0145 a0001c0001t0036g0149 a0001c0001t0037g0127 a0001c0001t0037g0128 a0001c0001t0038g0133 a0001c0001t0038g0155 a0001c0001t0039g0051 a0001c0001t0040g0160 a0001c0001t0040g0176 a0001c0001t0041g0047 a0001c0001t0042g0065 a0001c0001t0045g0179 a0001c0001t0046g0238 a0001c0001t0047g0201 a0001c0001t0048g0220 a0001c0001t0049g0224 a0001c0001t0050g0193 a0001c0001t0051g0210 a0001c0001t0052g0214 a0001c0001t0053g0229 a0001c0001t0054g0237 a0001c0001t0055g0195 a0001c0001t0056g0231 a0001c0001t0057g0217 a0001c0001t0058g0228 a0001c0001t0059g0212 a0001c0001t0060g0204 a0001c0001t0061g0218 a0001c0001t0062g0187 a0001c0001t0063g0114 a0001c0001t0064g0113 a0001c0001t0065g0185 a0001c0001t0066g0109 a0001c0001t0067g0107 a0001c0001t0068g0108 a0001c0001t0069g0104 a0001c0001t0070g0105 a0001c0001t0071g0184 a0001c0001t0072g0106 a0001c0001t0073g0112 a0001c0001t0074g0111 a0001c0001t0075g0110 a0001c0001t0076g0096 a0001c0001t0077g0188 a0001c0001t0078g0186 a0001c0001t0079g0079 a0001c0001t0080g0081 a0001c0001t0081g0148 a0001c0001t0082g0129 a0001c0001t0083g0093 a0001c0001t0084g0092 a0001c0001t0085g0150 a0001c0001t0086g0151 a0001c0001t0087g0152 a0001c0001t0088g0246 a0001c0001t0089g0118 a0001c0001t0090g0153 a0001c0001t0091g0119 a0001c0001t0092g0120 a0001c0001t0093g0121 a0001c0001t0094g0165 a0001c0001t0095g0126 a0001c0001t0096g0154 a0001c0001t0097g0181 a0001c0001t0098g0124 a0001c0001t0099g0156 a0001c0001t0100g0157 a0001c0001t0101g0084 a0001c0001t0102g0158 a0001c0001t0103g0183 a0001c0001t0104g0122 a0001c0001t0105g0139 a0001c0001t0106g0167 a0001c0001t0107g0123 a0001c0001t0108g0175 a0001c0001t0109g0159 a0001c0001t0110g0103 a0001c0001t0111g0171 a0001c0001t0112g0161 a0001c0008t0001g0206 a0002c0002t0004g0012 a0002c0002t0004g0019 a0002c0002t0004g0067 a0002c0002t0004g0068 a0002c0002t0004g0069 a0002c0002t0004g0071 a0002c0002t0043g0070 a0002c0002t0044g0066 a0003c0003t0014g0013 a0003c0003t0014g0072 a0003c0003t0014g0073 a0004c0004t0002g0247 a0004c0004t0025g0248 a0005c0005t0001g0074 a0006c0007t0001g0205 a0007c0006t0001g0199	406	414	0.9807	0	c.456 others(5): Show c.456+2T>C		C13orf46	ENSG00000283199.3	transcript	ENST00000636427.3	protein_coding	4/6						chr13	TogoVar
C17orf107_chr17_4894536_4907934	4900416	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp2 HG00639.hp2 HG00741.hp2 others(91): Show HG00099.hp2 HG00639.hp2 HG00741.hp2 HG01074.hp1 HG01081.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01243.hp2 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02129.hp1 HG02135.hp2 HG02258.hp1 HG02273.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02602.hp2 HG02615.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02818.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03516.hp2 HG03540.hp1 HG03669.hp1 HG03942.hp2 NA18522.hp1 NA18939.hp1 NA18939.hp2 NA18942.hp2 NA18946.hp1 NA18950.hp1 NA18951.hp1 NA18960.hp2 NA18961.hp1 NA18964.hp2 NA18965.hp1 NA18969.hp1 NA18986.hp2 NA18993.hp2 NA18995.hp2 NA18997.hp1 NA18999.hp2 NA19003.hp1 NA19007.hp2 NA19009.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19056.hp2 NA19066.hp2 NA19077.hp2 NA19086.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 others(4): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0002t0007 a0002c0002t0019 a0002c0002t0029 a0004c0004t0001	a0002c0002t0001g0001 a0002c0002t0002g0001 a0002c0002t0006g0001 others(4): Show a0002c0002t0001g0001 a0002c0002t0002g0001 a0002c0002t0006g0001 a0002c0002t0007g0001 a0002c0002t0019g0001 a0002c0002t0029g0001 a0004c0004t0001g0001	94	442	0.2127	0	c.456 others(3): Show c.456G>A	p.Trp others(4): Show p.Trp152*	C17orf107	ENSG00000205710.4	transcript	ENST00000381365.4	protein_coding	3/3	683/3201	456/573	152/190			chr17	TogoVar
C2orf50_chr2_11128128_11156317	11133332	A A	AC AC	frameshift_variant others(1): Show frameshift_variant start_lost	HIGH	HG00438.hp1 HG00609.hp1 HG00639.hp2 others(74): Show HG00438.hp1 HG00609.hp1 HG00639.hp2 HG01069.hp1 HG01070.hp1 HG01109.hp2 HG01175.hp1 HG01243.hp2 HG01261.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG02055.hp1 HG02055.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp2 NA18962.hp2 NA18970.hp1 NA18972.hp1 NA18987.hp2 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19066.hp2 NA19070.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0003 a0005c0005 a0001c0001 a0002c0003 a0005c0005	a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 others(32): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0002c0003t0034 a0005c0005t0039	a0001c0001t0003g0004 a0001c0001t0003g0010 a0001c0001t0003g0039 others(59): Show a0001c0001t0003g0004 a0001c0001t0003g0010 a0001c0001t0003g0039 a0001c0001t0003g0041 a0001c0001t0003g0182 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0200 a0001c0001t0007g0010 a0001c0001t0007g0037 a0001c0001t0007g0038 a0001c0001t0007g0183 a0001c0001t0007g0185 a0001c0001t0007g0199 a0001c0001t0007g0204 a0001c0001t0010g0004 a0001c0001t0010g0010 a0001c0001t0010g0040 a0001c0001t0010g0184 a0001c0001t0013g0019 a0001c0001t0013g0210 a0001c0001t0014g0035 a0001c0001t0014g0178 a0001c0001t0014g0201 a0001c0001t0019g0010 a0001c0001t0019g0039 a0001c0001t0019g0187 a0001c0001t0019g0205 a0001c0001t0021g0004 a0001c0001t0021g0010 a0001c0001t0021g0014 a0001c0001t0022g0018 a0001c0001t0024g0208 a0001c0001t0024g0209 a0001c0001t0025g0181 a0001c0001t0025g0202 a0001c0001t0033g0207 a0001c0001t0035g0180 a0001c0001t0036g0206 a0001c0001t0037g0179 a0001c0001t0038g0203 a0001c0001t0043g0036 a0001c0001t0044g0036 a0001c0001t0045g0211 a0001c0001t0047g0037 a0001c0001t0048g0192 a0001c0001t0049g0038 a0001c0001t0050g0190 a0001c0001t0051g0014 a0001c0001t0052g0194 a0001c0001t0053g0191 a0001c0001t0054g0188 a0001c0001t0055g0189 a0001c0001t0056g0014 a0001c0001t0057g0193 a0001c0001t0058g0186 a0001c0001t0059g0014 a0001c0001t0060g0198 a0001c0001t0061g0212 a0002c0003t0034g0046 a0005c0005t0039g0045	77	380	0.2026	1	c.-1d others(3): Show c.-1dupC	p.Met others(3): Show p.Met1fs	C2orf50	ENSG00000150873.12	transcript	ENST00000381585.8	protein_coding	1/3	208/7902	1/489	1/162		INFO_REALIGN_3_PRIME	chr2	TogoVar
C3orf49_chr3_63814299_63853636	63819538	C C	T T	stop_gained stop_gained	HIGH	HG02055.hp2 HG02809.hp1 HG02965.hp1 others(5): Show HG02055.hp2 HG02809.hp1 HG02965.hp1 HG02976.hp1 HG03491.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0009 a0004c0004t0001g0053 a0004c0004t0001g0054 a0004c0004t0001g0009 a0004c0004t0001g0053 a0004c0004t0001g0054	8	388	0.0206	0	c.67C others(2): Show c.67C>T	p.Arg others(3): Show p.Arg23*	C3orf49	ENSG00000163632.15	transcript	ENST00000295896.13	protein_coding	1/7	240/1355	67/879	23/292			chr3	TogoVar
C3orf52_chr3_112081389_112123210	112109537	G G	GT GT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(154): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00423.hp2 HG00597.hp1 HG00621.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01346.hp1 HG01361.hp1 HG01515.hp2 HG01516.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01975.hp1 HG01978.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18940.hp2 NA18941.hp2 NA18944.hp1 NA18946.hp2 NA18950.hp2 NA18952.hp2 NA18953.hp2 NA18963.hp1 NA18965.hp2 NA18969.hp2 NA18973.hp1 NA18977.hp1 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18989.hp1 NA18993.hp1 NA18995.hp1 NA18997.hp2 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19007.hp1 NA19009.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19058.hp1 NA19065.hp2 NA19072.hp1 NA19074.hp2 NA19081.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0006 a0008 a0009	a0001c0001 a0001c0011 a0001c0012 others(6): Show a0001c0001 a0001c0011 a0001c0012 a0002c0002 a0004c0005 a0005c0006 a0006c0007 a0008c0010 a0009c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0011t0002 a0001c0012t0002 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0004c0005t0002 a0005c0006t0002 a0006c0007t0006 a0008c0010t0002 a0009c0008t0002	a0001c0001t0001g0067 a0001c0001t0001g0118 a0001c0001t0002g0002 others(98): Show a0001c0001t0001g0067 a0001c0001t0001g0118 a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0058 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0133 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0214 a0001c0001t0004g0029 a0001c0001t0004g0112 a0001c0001t0006g0061 a0001c0001t0007g0033 a0001c0001t0007g0132 a0001c0001t0007g0134 a0001c0001t0011g0135 a0001c0001t0012g0060 a0001c0011t0002g0140 a0001c0012t0002g0131 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0052 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0100 a0002c0002t0003g0006 a0002c0002t0003g0012 a0002c0002t0003g0050 a0002c0002t0003g0051 a0002c0002t0003g0053 a0002c0002t0003g0097 a0002c0002t0004g0070 a0002c0002t0004g0071 a0002c0002t0006g0045 a0002c0002t0006g0075 a0002c0002t0006g0076 a0004c0005t0002g0013 a0005c0006t0002g0095 a0005c0006t0002g0096 a0006c0007t0006g0057 a0008c0010t0002g0065 a0009c0008t0002g0059	157	372	0.4220	1	c.397 others(6): Show c.397-3dupT		C3orf52	ENSG00000114529.13	transcript	ENST00000264848.10	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
C6orf52_chr6_10666422_10699616	10694492	A A	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00544.hp1 HG01243.hp2 HG02055.hp2 others(27): Show HG00544.hp1 HG01243.hp2 HG02055.hp2 HG02155.hp2 HG02451.hp2 HG02572.hp1 HG02647.hp2 HG02717.hp1 HG02922.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp2 HG03209.hp2 HG03239.hp2 HG03453.hp2 HG03486.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03831.hp2 HG04184.hp2 NA18522.hp1 NA18966.hp2 NA19000.hp2 NA19043.hp1 NA19074.hp1 NA19240.hp1 NA20129.hp2 NA21309.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0002c0003 a0003c0004 a0002c0002 a0002c0003 a0003c0004	a0002c0002t0002 a0002c0003t0002 a0002c0003t0004 others(1): Show a0002c0002t0002 a0002c0003t0002 a0002c0003t0004 a0003c0004t0002	a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0003t0002g0017 others(23): Show a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0003t0002g0017 a0002c0003t0002g0043 a0002c0003t0002g0044 a0002c0003t0002g0045 a0002c0003t0002g0046 a0002c0003t0002g0047 a0002c0003t0002g0048 a0002c0003t0002g0049 a0002c0003t0002g0050 a0002c0003t0002g0051 a0002c0003t0002g0052 a0002c0003t0002g0053 a0002c0003t0002g0054 a0002c0003t0002g0055 a0002c0003t0002g0056 a0002c0003t0002g0057 a0002c0003t0002g0058 a0002c0003t0002g0060 a0002c0003t0002g0061 a0002c0003t0004g0009 a0002c0003t0004g0039 a0002c0003t0004g0040 a0003c0004t0002g0018 a0003c0004t0002g0059	30	284	0.1056	0	c.-12 others(5): Show c.-12+2T>C		C6orf52	ENSG00000137434.12	transcript	ENST00000259983.8	protein_coding	1/4						chr6	TogoVar
C8orf34_chr8_68325955_68824023	68331068	TCCGGCTC others(7): Show TCCGGCTCTCAGCGC	T T	frameshift_variant frameshift_variant	HIGH	HG02109.hp1 HG02717.hp2 HG03453.hp1 others(1): Show HG02109.hp1 HG02717.hp2 HG03453.hp1 HG03540.hp2	a0003 a0003	a0003c0006 a0003c0008 a0003c0006 a0003c0008	a0003c0006t0001 a0003c0006t0004 a0003c0008t0001 a0003c0006t0001 a0003c0006t0004 a0003c0008t0001	a0003c0006t0001g0122 a0003c0006t0001g0125 a0003c0006t0004g0124 others(1): Show a0003c0006t0001g0122 a0003c0006t0001g0125 a0003c0006t0004g0124 a0003c0008t0001g0123	4	128	0.0313	-14	c.59_ others(19): Show c.59_72delGGCTCTCAGCGCCC	p.Arg others(4): Show p.Arg20fs	C8orf34	ENSG00000165084.16	transcript	ENST00000518698.6	protein_coding	1/14	117/2452	59/1617	20/538		INFO_REALIGN_3_PRIME	chr8	TogoVar
CABYR_chr18_24134062_24166600	24160067	CTG CTG	C C	frameshift_variant others(2): Show frameshift_variant stop_lost splice_region_variant	HIGH	HG01884.hp2 HG02559.hp1 HG02723.hp2 others(7): Show HG01884.hp2 HG02559.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02976.hp2 HG03041.hp2 HG03225.hp1 HG03453.hp1 HG03540.hp2	a0003 a0003	a0003c0012 a0003c0015 a0003c0033 a0003c0012 a0003c0015 a0003c0033	a0003c0012t0001 a0003c0015t0001 a0003c0033t0001 a0003c0012t0001 a0003c0015t0001 a0003c0033t0001	a0003c0012t0001g0015 a0003c0012t0001g0104 a0003c0012t0001g0105 others(5): Show a0003c0012t0001g0015 a0003c0012t0001g0104 a0003c0012t0001g0105 a0003c0015t0001g0155 a0003c0015t0001g0156 a0003c0015t0001g0157 a0003c0015t0001g0163 a0003c0033t0001g0127	10	408	0.0245	-2	c.113 others(11): Show c.1138_1139delTG	p.Ter others(5): Show p.Ter380fs	CABYR	ENSG00000154040.21	transcript	ENST00000399496.8	protein_coding	5/6	1219/1305	1138/1140	380/379			chr18	TogoVar
CACNB2_chr10_18135424_18548557	18150855	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02486.hp1 HG03540.hp1 HG03540.hp2 others(1): Show HG02486.hp1 HG03540.hp1 HG03540.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0001t0011 a0001c0001t0045 others(1): Show a0001c0001t0008 a0001c0001t0011 a0001c0001t0045 a0001c0002t0002	a0001c0001t0008g0063 a0001c0001t0011g0125 a0001c0001t0045g0128 others(1): Show a0001c0001t0008g0063 a0001c0001t0011g0125 a0001c0001t0045g0128 a0001c0002t0002g0050	4	200	0.0200	18	c.121 others(30): Show c.121-20_121-3dupTTTTTTTTTTTTTTTTTT		CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr10	TogoVar
CAPN15_chr16_522712_559636	536144	T T	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00639.hp1 HG01069.hp2 HG01070.hp2 others(43): Show HG00639.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01168.hp2 HG01257.hp1 HG01258.hp2 HG01433.hp1 HG01891.hp2 HG01981.hp2 HG02074.hp2 HG02109.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02559.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02886.hp1 HG02896.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03471.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03704.hp2 HG06807.hp1 NA18945.hp2 NA18956.hp1 NA18962.hp2 NA18963.hp2 NA18967.hp2 NA18984.hp2 NA19004.hp1 NA19030.hp1 NA20129.hp2 NA20300.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0009 a0014 a0015 a0020 a0023	a0001c0001 a0001c0002 a0001c0003 others(20): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0022 a0001c0046 a0001c0067 a0001c0072 a0002c0037 a0002c0040 a0003c0012 a0003c0059 a0004c0018 a0004c0019 a0004c0025 a0009c0024 a0014c0041 a0015c0036 a0020c0066 a0023c0068	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 a0001c0002t0009 a0001c0002t0019 a0001c0003t0001 a0001c0004t0001 a0001c0004t0003 a0001c0005t0001 a0001c0005t0010 a0001c0006t0001 a0001c0006t0003 a0001c0007t0036 a0001c0022t0001 a0001c0046t0037 a0001c0067t0016 a0001c0072t0004 a0002c0037t0001 a0002c0040t0001 a0003c0012t0002 a0003c0059t0002 a0004c0018t0001 a0004c0018t0014 a0004c0019t0003 a0004c0025t0003 a0009c0024t0001 a0009c0024t0002 a0014c0041t0004 a0015c0036t0001 a0020c0066t0001 a0023c0068t0001	a0001c0001t0001g0017 a0001c0001t0001g0350 a0001c0001t0001g0362 others(41): Show a0001c0001t0001g0017 a0001c0001t0001g0350 a0001c0001t0001g0362 a0001c0001t0001g0384 a0001c0001t0001g0394 a0001c0001t0002g0353 a0001c0002t0001g0361 a0001c0002t0003g0357 a0001c0002t0009g0398 a0001c0002t0019g0397 a0001c0003t0001g0352 a0001c0003t0001g0355 a0001c0003t0001g0356 a0001c0004t0001g0393 a0001c0004t0003g0009 a0001c0004t0003g0354 a0001c0004t0003g0377 a0001c0004t0003g0378 a0001c0004t0003g0379 a0001c0004t0003g0380 a0001c0004t0003g0381 a0001c0005t0001g0030 a0001c0005t0010g0304 a0001c0006t0001g0351 a0001c0006t0003g0277 a0001c0007t0036g0358 a0001c0022t0001g0303 a0001c0046t0037g0268 a0001c0067t0016g0279 a0001c0072t0004g0395 a0002c0037t0001g0382 a0002c0040t0001g0360 a0003c0012t0002g0267 a0003c0059t0002g0065 a0004c0018t0001g0274 a0004c0018t0014g0007 a0004c0019t0003g0275 a0004c0025t0003g0278 a0009c0024t0001g0386 a0009c0024t0002g0359 a0014c0041t0004g0385 a0015c0036t0001g0392 a0020c0066t0001g0248 a0023c0068t0001g0364	46	410	0.1122	0	c.-23 others(5): Show c.-23+2T>C		CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13						chr16	TogoVar
CAPS2_chr12_75270979_75335324	75323223	C C	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0220 a0001c0001t0007g0220	1	370	0.0027	0	c.132 others(5): Show c.132-1G>T		CAPS2	ENSG00000180881.21	transcript	ENST00000699294.1	protein_coding	3/16						chr12	TogoVar
CATSPER2_chr15_43623503_43653844	43632936	T T	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp2 HG00280.hp2 HG00408.hp1 others(173): Show HG00099.hp2 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00642.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01243.hp2 HG01255.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01943.hp1 HG01981.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02698.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03927.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18953.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18972.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp2 NA19003.hp1 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19058.hp2 NA19063.hp2 NA19064.hp2 NA19068.hp2 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19081.hp2 NA19084.hp2 NA19089.hp1 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0007	a0001c0001 a0001c0005 a0002c0002 others(4): Show a0001c0001 a0001c0005 a0002c0002 a0002c0008 a0003c0003 a0006c0009 a0007c0012	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(17): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0014 a0001c0001t0018 a0001c0005t0004 a0002c0002t0002 a0002c0002t0009 a0002c0002t0012 a0002c0002t0023 a0002c0008t0002 a0003c0003t0008 a0003c0003t0011 a0003c0003t0021 a0006c0009t0002 a0007c0012t0022	a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 others(113): Show a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0195 a0001c0001t0004g0003 a0001c0001t0004g0043 a0001c0001t0004g0044 a0001c0001t0004g0045 a0001c0001t0005g0054 a0001c0001t0006g0012 a0001c0001t0006g0130 a0001c0001t0006g0131 a0001c0001t0006g0132 a0001c0001t0007g0027 a0001c0001t0007g0028 a0001c0001t0010g0026 a0001c0001t0010g0189 a0001c0001t0014g0124 a0001c0001t0018g0128 a0001c0005t0004g0046 a0001c0005t0004g0047 a0001c0005t0004g0048 a0002c0002t0002g0004 a0002c0002t0002g0007 a0002c0002t0002g0011 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0141 a0002c0002t0002g0143 a0002c0002t0002g0144 a0002c0002t0002g0145 a0002c0002t0002g0146 a0002c0002t0002g0148 a0002c0002t0002g0149 a0002c0002t0002g0150 a0002c0002t0002g0151 a0002c0002t0002g0152 a0002c0002t0002g0153 a0002c0002t0002g0154 a0002c0002t0002g0155 a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0159 a0002c0002t0002g0160 a0002c0002t0002g0161 a0002c0002t0002g0162 a0002c0002t0002g0163 a0002c0002t0002g0164 a0002c0002t0002g0165 a0002c0002t0002g0166 a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0002g0169 a0002c0002t0002g0170 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0176 a0002c0002t0002g0178 a0002c0002t0002g0179 a0002c0002t0002g0199 a0002c0002t0009g0177 a0002c0002t0009g0196 a0002c0002t0009g0197 a0002c0002t0009g0198 a0002c0002t0012g0142 a0002c0002t0012g0158 a0002c0002t0023g0147 a0002c0008t0002g0139 a0003c0003t0008g0022 a0003c0003t0008g0129 a0003c0003t0011g0049 a0003c0003t0011g0050 a0003c0003t0021g0127 a0006c0009t0002g0140 a0007c0012t0022g0180	176	392	0.4490	0	c.117 others(6): Show c.1179-2A>T		CATSPER2	ENSG00000166762.19	transcript	ENST00000396879.8	protein_coding	10/12						chr15	TogoVar
CBS_chr21_43048191_43080835	43063074	A A	ATGATCTG others(61): Show ATGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCA CCTGGATGATCCACCCCAG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG00099.hp2 HG00280.hp2 HG01081.hp1 others(37): Show HG00099.hp2 HG00280.hp2 HG01081.hp1 HG01109.hp1 HG01167.hp1 HG01243.hp1 HG01257.hp1 HG01258.hp2 HG01361.hp2 HG01433.hp1 HG02055.hp1 HG02559.hp1 HG02630.hp1 HG02630.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02965.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03710.hp2 HG03834.hp2 NA19030.hp2 NA19043.hp1 NA19240.hp2 NA20300.hp2	a0002 a0008 a0002 a0008	a0002c0003 a0008c0015 a0002c0003 a0008c0015	a0002c0003t0001 a0002c0003t0003 a0002c0003t0004 others(2): Show a0002c0003t0001 a0002c0003t0003 a0002c0003t0004 a0002c0003t0006 a0008c0015t0012	a0002c0003t0001g0110 a0002c0003t0001g0175 a0002c0003t0003g0119 others(26): Show a0002c0003t0001g0110 a0002c0003t0001g0175 a0002c0003t0003g0119 a0002c0003t0004g0010 a0002c0003t0004g0011 a0002c0003t0004g0016 a0002c0003t0004g0031 a0002c0003t0004g0032 a0002c0003t0004g0037 a0002c0003t0004g0106 a0002c0003t0004g0107 a0002c0003t0004g0108 a0002c0003t0004g0109 a0002c0003t0004g0111 a0002c0003t0004g0113 a0002c0003t0004g0114 a0002c0003t0004g0115 a0002c0003t0004g0117 a0002c0003t0004g0118 a0002c0003t0004g0120 a0002c0003t0004g0164 a0002c0003t0004g0165 a0002c0003t0004g0166 a0002c0003t0004g0179 a0002c0003t0006g0015 a0002c0003t0006g0137 a0002c0003t0006g0160 a0002c0003t0006g0161 a0008c0015t0012g0158	40	298	0.1342	68	c.832 others(75): Show c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTT GAGCCCTGAAGCCGCGCCCTCTGCAGATCA	p.Ile others(5): Show p.Ile278fs	CBS	ENSG00000160200.18	transcript	ENST00000398165.8	protein_coding	10/17	982/2495	832/1656	278/551			chr21	TogoVar
CCDC153_chr11_119185254_119200841	119193862	G G	A A	stop_gained stop_gained	HIGH	HG01884.hp1 HG02055.hp1 HG02109.hp1 others(5): Show HG01884.hp1 HG02055.hp1 HG02109.hp1 HG02622.hp1 HG02647.hp1 HG03041.hp2 HG03486.hp2 HG03540.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0051 a0004c0005t0001g0105 a0004c0005t0001g0106 others(4): Show a0004c0005t0001g0051 a0004c0005t0001g0105 a0004c0005t0001g0106 a0004c0005t0001g0107 a0004c0005t0001g0108 a0004c0005t0001g0109 a0004c0005t0001g0110	8	428	0.0187	0	c.160 others(3): Show c.160C>T	p.Arg others(3): Show p.Arg54*	CCDC153	ENSG00000248712.8	transcript	ENST00000503566.7	protein_coding	4/7	215/734	160/633	54/210			chr11	TogoVar
CCDC198_chr14_57464300_57498857	57481662	T T	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(258): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02615.hp1 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18993.hp1 NA18993.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0003c0005 a0005c0007	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(11): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0016 a0001c0001t0017 a0001c0002t0002 a0001c0002t0010 a0001c0002t0013 a0001c0002t0018 a0002c0003t0003 a0002c0003t0006 a0002c0003t0011 a0003c0005t0001 a0005c0007t0008	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(133): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0005g0040 a0001c0001t0005g0142 a0001c0001t0007g0159 a0001c0001t0016g0162 a0001c0001t0017g0075 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0164 a0001c0002t0010g0176 a0001c0002t0013g0071 a0001c0002t0018g0070 a0002c0003t0003g0065 a0002c0003t0003g0167 a0002c0003t0006g0044 a0002c0003t0011g0066 a0003c0005t0001g0042 a0003c0005t0001g0179 a0005c0007t0008g0072	261	362	0.7210	0	c.394 others(5): Show c.394-2A>G		CCDC198	ENSG00000100557.10	transcript	ENST00000216445.8	protein_coding	3/5						chr14	TogoVar
CCHCR1_chr6_31137439_31162802	31157072	C C	T T	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(184): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00621.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp2 HG02300.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02738.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG03017.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18940.hp1 NA18941.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18948.hp1 NA18949.hp2 NA18951.hp2 NA18954.hp1 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18964.hp2 NA18967.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp2 NA18986.hp2 NA18987.hp2 NA18991.hp1 NA18993.hp1 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19007.hp2 NA19030.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19064.hp2 NA19065.hp1 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19077.hp2 NA19078.hp2 NA19080.hp2 NA19084.hp2 NA19087.hp1 NA19089.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0009 others(8): Show a0001c0001 a0001c0006 a0001c0009 a0001c0011 a0001c0014 a0001c0015 a0001c0017 a0001c0019 a0001c0025 a0001c0026 a0001c0027	a0001c0001t0001 a0001c0006t0001 a0001c0009t0004 others(9): Show a0001c0001t0001 a0001c0006t0001 a0001c0009t0004 a0001c0009t0005 a0001c0011t0001 a0001c0014t0001 a0001c0015t0001 a0001c0017t0001 a0001c0019t0001 a0001c0025t0001 a0001c0026t0001 a0001c0027t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(67): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0006t0001g0014 a0001c0006t0001g0018 a0001c0006t0001g0023 a0001c0006t0001g0117 a0001c0006t0001g0118 a0001c0006t0001g0119 a0001c0006t0001g0121 a0001c0006t0001g0132 a0001c0006t0001g0139 a0001c0006t0001g0140 a0001c0006t0001g0141 a0001c0006t0001g0142 a0001c0006t0001g0143 a0001c0009t0004g0020 a0001c0009t0004g0059 a0001c0009t0004g0060 a0001c0009t0004g0167 a0001c0009t0004g0168 a0001c0009t0004g0169 a0001c0009t0004g0170 a0001c0009t0004g0171 a0001c0009t0004g0172 a0001c0009t0004g0173 a0001c0009t0004g0175 a0001c0009t0005g0061 a0001c0009t0005g0174 a0001c0009t0005g0176 a0001c0011t0001g0021 a0001c0011t0001g0031 a0001c0011t0001g0111 a0001c0011t0001g0112 a0001c0011t0001g0113 a0001c0011t0001g0114 a0001c0014t0001g0013 a0001c0015t0001g0032 a0001c0015t0001g0116 a0001c0017t0001g0053 a0001c0017t0001g0120 a0001c0019t0001g0131 a0001c0019t0001g0137 a0001c0025t0001g0115 a0001c0026t0001g0125 a0001c0027t0001g0144	187	455	0.4110	0	c.234 others(3): Show c.234G>A	p.Trp others(3): Show p.Trp78*	CCHCR1	ENSG00000204536.15	transcript	ENST00000396268.8	protein_coding	2/18	436/2971	234/2616	78/871			chr6	TogoVar
CCL20_chr2_227808842_227822556	227815437	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02055.hp2 HG02145.hp1 HG02258.hp2 others(27): Show HG02055.hp2 HG02145.hp1 HG02258.hp2 HG02280.hp2 HG02486.hp2 HG02559.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02922.hp2 HG03041.hp2 HG03130.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03540.hp1 HG03540.hp2 NA19043.hp1 NA19043.hp2 NA19075.hp2 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0003 a0003c0005t0001 a0001c0001t0001 a0001c0001t0003 a0003c0005t0001	a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0031 others(4): Show a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0003g0010 a0003c0005t0001g0023	30	448	0.0670	1	c.77- others(5): Show c.77-3dupT		CCL20	ENSG00000115009.13	transcript	ENST00000358813.5	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
CCNL2_chr1_1380711_1404335	1398672	CTAGAG CTAGAG	C C	splice_acceptor_variant others(2): Show splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00544.hp1 HG00558.hp2 HG01109.hp1 others(49): Show HG00544.hp1 HG00558.hp2 HG01109.hp1 HG01123.hp1 HG01192.hp2 HG01261.hp1 HG01433.hp1 HG02015.hp2 HG02027.hp2 HG02055.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02523.hp2 HG02602.hp2 HG02622.hp2 HG02630.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03492.hp1 HG03540.hp2 HG03710.hp1 HG04115.hp2 HG04184.hp2 NA18612.hp2 NA18943.hp2 NA18948.hp1 NA18949.hp2 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18970.hp2 NA18980.hp1 NA18982.hp2 NA18983.hp2 NA18985.hp1 NA18997.hp1 NA18998.hp2 NA19003.hp1 NA19005.hp1 NA19009.hp1 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19079.hp2 NA19086.hp2 NA19088.hp2 NA19089.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0005 a0001c0001 a0002c0002 a0005c0005	a0001c0001t0002 a0001c0001t0005 a0001c0001t0014 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0014 a0002c0002t0002 a0005c0005t0002	a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0042 others(35): Show a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0193 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0005g0183 a0001c0001t0014g0199 a0002c0002t0002g0011 a0002c0002t0002g0179 a0002c0002t0002g0180 a0002c0002t0002g0186 a0002c0002t0002g0192 a0002c0002t0002g0194 a0002c0002t0002g0198 a0005c0005t0002g0213 a0005c0005t0002g0214 a0005c0005t0002g0215	52	370	0.1405	-5	c.289 others(16): Show c.289-6_289-2delCTCTA		CCNL2	ENSG00000221978.13	transcript	ENST00000400809.8	protein_coding	1/10						chr1	TogoVar
CD200R1L_chr3_112810711_112851864	112827063	GT GT	G G	frameshift_variant frameshift_variant	HIGH	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(46): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00642.hp2 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01169.hp1 HG01175.hp2 HG01258.hp2 HG01496.hp1 HG01516.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02080.hp1 HG02109.hp2 HG02145.hp1 HG02165.hp2 HG02293.hp2 HG02300.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02683.hp2 HG02717.hp1 HG02735.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG03041.hp1 HG03195.hp1 HG03239.hp1 HG03491.hp2 HG03540.hp2 HG03654.hp2 HG04228.hp2 HG06807.hp1 NA18949.hp2 NA18967.hp1 NA18981.hp1 NA18994.hp1 NA18999.hp1 NA19030.hp1 NA19055.hp2 NA19060.hp2 homoSapiens_chm13v2.hp1	a0003 a0003	a0003c0004 a0003c0006 a0003c0004 a0003c0006	a0003c0004t0001 a0003c0006t0001 a0003c0004t0001 a0003c0006t0001	a0003c0004t0001g0004 a0003c0004t0001g0005 a0003c0004t0001g0019 others(25): Show a0003c0004t0001g0004 a0003c0004t0001g0005 a0003c0004t0001g0019 a0003c0004t0001g0031 a0003c0004t0001g0032 a0003c0004t0001g0065 a0003c0004t0001g0068 a0003c0004t0001g0069 a0003c0004t0001g0070 a0003c0004t0001g0072 a0003c0004t0001g0073 a0003c0004t0001g0074 a0003c0004t0001g0075 a0003c0004t0001g0077 a0003c0004t0001g0078 a0003c0004t0001g0079 a0003c0004t0001g0080 a0003c0004t0001g0081 a0003c0004t0001g0082 a0003c0004t0001g0083 a0003c0004t0001g0084 a0003c0004t0001g0092 a0003c0004t0001g0095 a0003c0004t0001g0096 a0003c0004t0001g0097 a0003c0004t0001g0098 a0003c0004t0001g0180 a0003c0006t0001g0076	49	408	0.1201	-1	c.545 others(4): Show c.545delA	p.His others(5): Show p.His182fs	CD200R1L	ENSG00000206531.12	transcript	ENST00000488794.6	protein_coding	6/8	1143/1603	545/753	182/250			chr3	TogoVar
CD40_chr20_46113314_46134858	46128304	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01109.hp1 HG01361.hp1 HG01361.hp2 others(39): Show HG01109.hp1 HG01361.hp1 HG01361.hp2 HG01884.hp1 HG01884.hp2 HG02109.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02615.hp2 HG02738.hp1 HG02809.hp1 HG02896.hp2 HG02922.hp2 HG02970.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03453.hp2 HG03471.hp2 HG03490.hp2 HG03516.hp2 HG03540.hp1 HG03654.hp2 HG03704.hp1 HG03927.hp2 NA18906.hp1 NA18940.hp1 NA18950.hp1 NA18951.hp1 NA18964.hp2 NA18968.hp1 NA18971.hp1 NA18986.hp2 NA18990.hp2 NA19001.hp1 NA19005.hp1 NA19010.hp1 NA19063.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0007t0001	a0001c0001t0001g0029 a0001c0001t0001g0048 a0001c0001t0001g0071 others(34): Show a0001c0001t0001g0029 a0001c0001t0001g0048 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0102 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0129 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0002g0177 a0001c0001t0002g0180 a0001c0001t0002g0201 a0001c0001t0003g0026 a0001c0001t0003g0043 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0147 a0001c0001t0003g0191 a0001c0001t0005g0182 a0001c0001t0008g0101 a0001c0007t0001g0048	42	416	0.1010	1	c.647 others(6): Show c.647-3dupT		CD40	ENSG00000101017.15	transcript	ENST00000372285.8	protein_coding	7/8					INFO_REALIGN_3_PRIME	chr20	TogoVar
CD8B2_chr2_106482364_106516095	106502564	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02818.hp1 HG03225.hp1 HG03471.hp1 others(2): Show HG02818.hp1 HG03225.hp1 HG03471.hp1 HG03540.hp1 NA19043.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0030 a0002c0003t0008g0108 a0002c0003t0008g0109 a0002c0003t0008g0030 a0002c0003t0008g0108 a0002c0003t0008g0109	5	350	0.0143	0	c.583 others(5): Show c.583+1G>A		CD8B2	ENSG00000254126.8	transcript	ENST00000643224.2	protein_coding	4/5						chr2	TogoVar

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